Publications

*If you are a SETBP1 parent and want a copy of any of these publications, send an email info@setbp1.org.

Research Publications for SETBP1-HD

4714534 DZWV2TAQ 1 apa 5 default 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22585M4IFQ%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Gr%5Cu00f6nberg%20et%20al.%22%2C%22parsedDate%22%3A%222024-11-23%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EGr%5Cu00f6nberg%2C%20D.%20J.%2C%20Carvalho%2C%20S.%20L.%20P.%2C%20Dernerova%2C%20N.%2C%20Norton%2C%20P.%2C%20Wong%2C%20M.%20M.%20K.%2C%20%26%20Mendoza%2C%20E.%20%282024%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41598-024-75353-w%27%3EExpression%20and%20regulation%20of%20SETBP1%20in%20the%20song%20system%20of%20male%20zebra%20finches%20%28Taeniopygia%20guttata%29%20during%20singing%3C%5C%2Fa%3E.%20%3Ci%3EScientific%20Reports%3C%5C%2Fi%3E%2C%20%3Ci%3E14%3C%5C%2Fi%3E.%20https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1038%5C%2Fs41598-024-75353-w%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Expression%20and%20regulation%20of%20SETBP1%20in%20the%20song%20system%20of%20male%20zebra%20finches%20%28Taeniopygia%20guttata%29%20during%20singing%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.J.%22%2C%22lastName%22%3A%22Gr%5Cu00f6nberg%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.L.P.%22%2C%22lastName%22%3A%22Carvalho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Dernerova%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Norton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.M.K.%22%2C%22lastName%22%3A%22Wong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E%22%2C%22lastName%22%3A%22Mendoza%22%7D%5D%2C%22abstractNote%22%3A%22Rare%20de%20novo%20heterozygous%20loss-of-function%20SETBP1%20variants%20lead%20to%20a%20neurodevelopmental%20disorder%20characterized%20by%20speech%20deficits%2C%20indicating%20a%20potential%20involvement%20of%20SETBP1%20in%20human%20speech.%20However%2C%20the%20expression%20pattern%20of%20SETBP1%20in%20brain%20regions%20associated%20with%20vocal%20learning%20remains%20poorly%20understood%2C%20along%20with%20the%20underlying%20molecular%20mechanisms%20linking%20it%20to%20vocal%20production.%20In%20this%20study%2C%20we%20examined%20SETBP1%20expression%20in%20the%20brain%20of%20male%20zebra%20finches%2C%20a%20well-established%20model%20for%20studying%20vocal%20production%20learning.%20We%20demonstrated%20that%20zebra%20finch%20SETBP1%20exhibits%20a%20greater%20number%20of%20exons%20and%20isoforms%20compared%20to%20its%20human%20counterpart.%20We%20characterized%20a%20SETBP1%20antibody%20and%20showed%20that%20SETBP1%20colocalized%20with%20FoxP1%2C%20FoxP2%2C%20and%20Parvalbumin%20in%20key%20song%20nuclei.%20Moreover%2C%20SETBP1%20expression%20in%20neurons%20in%20Area%20X%20is%20significantly%20higher%20in%20zebra%20finches%20singing%20alone%2C%20than%20those%20singing%20courtship%20song%20to%20a%20female%2C%20or%20non-singers.%20Importantly%2C%20we%20found%20a%20distinctive%20neuronal%20protein%20expression%20of%20SETBP1%20and%20FoxP2%20in%20Area%20X%20only%20in%20zebra%20finches%20singing%20alone%2C%20but%20not%20in%20the%20other%20conditions.%20We%20demonstrated%20SETBP1%5Cu00b4s%20regulatory%20role%20on%20FoxP2%20promoter%20activity%20in%20vitro.%20Taken%20together%2C%20these%20findings%20provide%20compelling%20evidence%20for%20SETBP1%20expression%20in%20brain%20regions%20to%20be%20crucial%20for%20vocal%20learning%20and%20its%20modulation%20by%20singing%20behavior.%22%2C%22date%22%3A%222024-11-23%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fs41598-024-75353-w%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41598-024-75353-w%22%2C%22collections%22%3A%5B%22DZWV2TAQ%22%5D%2C%22dateModified%22%3A%222024-12-17T21%3A17%3A03Z%22%7D%7D%2C%7B%22key%22%3A%22NTIV33B7%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Oyler%20et%20al.%22%2C%22parsedDate%22%3A%222024-06-26%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EOyler%2C%20H.%20O.%2C%20Hudac%2C%20C.%20M.%2C%20Chung%2C%20W.%20K.%2C%20Green-Synder%2C%20L.%2C%20Robertson%2C%20S.%2C%20Srivastava%2C%20S.%2C%20%26%20Geye%2C%20T.%20%282024%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F38923504%5C%2F%27%3ESETBP1%20haploinsufficiency%20and%20related%20disorders%20clinical%20and%20neurobehavioral%20phenotype%20study%3C%5C%2Fa%3E.%20%3Ci%3EClinical%20Genetics%3C%5C%2Fi%3E.%20https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2Fcge.14579%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22SETBP1%20haploinsufficiency%20and%20related%20disorders%20clinical%20and%20neurobehavioral%20phenotype%20study%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.O.%22%2C%22lastName%22%3A%22Oyler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.M.%22%2C%22lastName%22%3A%22Hudac%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22W.%20K.%22%2C%22lastName%22%3A%22Chung%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Green-Synder%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Robertson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Srivastava%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Geye%22%7D%5D%2C%22abstractNote%22%3A%22To%20comprehensively%20investigate%20the%20neurodevelopmental%20profile%20and%20clinical%20characteristics%20associated%20with%20SETBP1%20haploinsufficiency%20disorder%20%28SETBP1-HD%29%20and%20SETBP1-related%20disorders%20%28SETBP1-RD%29.%20We%20reported%20genetic%20results%20on%2034%20individuals%2C%20with%20behavior%20and%20clinical%20data%20from%2022%20with%20SETBP1-HD%20and%205%20with%20SETBP1-RD%2C%20by%20assessing%20results%20from%20medical%20history%20interviews%20and%20standardized%20adaptive%2C%20clinical%2C%20and%20social%20measures%20provided%20from%20Simons%20Searchlight.%20All%20individuals%20with%20SETBP1-HD%20and%20SETBP1-RD%20exhibited%20neurological%20impairments%20including%20intellectual%20disability%5C%2Fdevelopmental%20delay%20%28IDD%29%2C%20attention-deficit%5C%2Fhyperactivity%20disorder%2C%20autism%20spectrum%20disorder%2C%20and%5C%2For%20seizures%2C%20as%20well%20as%20speech%20and%20language%20delays.%20While%20restricted%20interests%20and%20repetitive%20behaviors%20present%20challenges%2C%20a%20relative%20strength%20was%20observed%20in%20social%20motivation%20within%20both%20cohorts.%20Individuals%20with%20SETBP1-RD%20reported%20a%20risk%20for%20heart%20issues%20and%20compared%20to%20SETBP1-HD%20greater%20risks%20for%20orthopedic%20and%20somatic%20issues%20with%20greater%20difficulty%20in%20bowel%20control.%20Higher%20rates%20for%20neonatal%20feeding%20difficulties%20and%20febrile%20seizures%20were%20reported%20for%20individuals%20with%20SETBP1-HD.%20Additional%20prominent%20characteristics%20included%20sleep%2C%20vision%2C%20and%20gastrointestinal%20issues%2C%20hypotonia%2C%20and%20high%20pain%20tolerance.%20This%20characterization%20of%20phenotypic%20overlap%20%28IDD%2C%20speech%20challenges%2C%20autistic%2C%20and%20attention%20deficit%20traits%29%20and%20differentiation%20%28somatic%20and%20heart%20issue%20risks%20for%20SETBP1-RD%29%20between%20the%20distinct%20neurodevelopmental%20disorders%20SETBP1-HD%20and%20SETBP1-RD%20is%20critical%20for%20medical%20management%20and%20diagnosis.%22%2C%22date%22%3A%222024-06-26%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1111%5C%2Fcge.14579%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F38923504%5C%2F%22%2C%22collections%22%3A%5B%22DZWV2TAQ%22%5D%2C%22dateModified%22%3A%222024-12-17T21%3A16%3A03Z%22%7D%7D%2C%7B%22key%22%3A%22HWUTGK57%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Boban%20et%20al.%22%2C%22parsedDate%22%3A%222020-08-31%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EBoban%2C%20I.%20V.%2C%20Sekiguchi%2C%20F.%2C%20Lozi%5Cu0107%2C%20M.%2C%20Miyake%2C%20N.%2C%20Matsumoto%2C%20N.%2C%20%26%20Lozi%5Cu0107%2C%20B.%20%282020%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC9236750%5C%2F%27%3EA%20Novel%20SETBP1%20Gene%20Disruption%20by%20a%20De%20Novo%20Balanced%20Translocation%20in%20a%20Patient%20with%20Speech%20Impairment%2C%20Intellectual%2C%20and%20Behavioral%20Disorder%3C%5C%2Fa%3E.%20%3Ci%3EJ%20Pediatr%20Genet%3C%5C%2Fi%3E%2C%20%3Ci%3E11%3C%5C%2Fi%3E%282%29%2C%20135%5Cu2013138.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%20Novel%20SETBP1%20Gene%20Disruption%20by%20a%20De%20Novo%20Balanced%20Translocation%20in%20a%20Patient%20with%20Speech%20Impairment%2C%20Intellectual%2C%20and%20Behavioral%20Disorder%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22I.V.%22%2C%22lastName%22%3A%22Boban%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Sekiguchi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Lozi%5Cu0107%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Miyake%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Matsumoto%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B%22%2C%22lastName%22%3A%22Lozi%5Cu0107%22%7D%5D%2C%22abstractNote%22%3A%22Balanced%20chromosomal%20abnormalities%20%28BCAs%29%20can%20disrupt%20gene%20function%20resulting%20in%20disease.%20To%20date%2C%20BCA%20disrupting%20the%20SET%20binding%20protein%201%20%28%20SETBP1%20%29%20gene%20has%20not%20been%20reported.%20On%20the%20other%20hand%2C%20de%20novo%20heterozygous%20variants%20in%20the%20highly%20conserved%2011-bp%20region%20in%20SETBP1%20can%20result%20in%20the%20Schinzel%5Cu2013Giedion%20syndrome.%20This%20condition%20is%20characterized%20by%20severe%20intellectual%20disability%2C%20a%20characteristic%20face%2C%20and%20multiple-system%20anomalies.%20Further%20other%20types%20of%20mutations%20involving%20SETBP1%20are%20associated%20with%20a%20different%20phenotype%2C%20mental%20retardation%2C%20autosomal%20dominant%2029%20%28MRD29%29%2C%20which%20has%20mild%20dysmorphic%20features%2C%20developmental%20delay%2C%20and%20behavioral%20disorders.%20Here%20we%20report%20a%20male%20patient%20who%20has%20moderate%20intellectual%20disability%2C%20mild%20behavioral%20difficulties%2C%20and%20severe%20expressive%20speech%20impairment%20resulting%20from%20a%20de%20novo%20balanced%20chromosome%20translocation%2C%20t%2812%3B18%29%28q22%3Bq12.3%29.%20By%20whole%20genome%20sequencing%2C%20we%20determined%20the%20breakpoints%20at%20the%20nucleotide%20level.%20The%2018q12.3%20breakpoint%20was%20located%20between%20exons%202%20and%203%20of%20SETBP1%20.%20Phenotypic%20features%20of%20our%20patient%20are%20compatible%20with%20those%20with%20MRD29.%20This%20is%20the%20first%20reported%20BCA%20disrupting%20SETBP1%20.%22%2C%22date%22%3A%222020%20Aug%2031%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC9236750%5C%2F%22%2C%22collections%22%3A%5B%22DZWV2TAQ%22%5D%2C%22dateModified%22%3A%222024-12-03T17%3A03%3A47Z%22%7D%7D%2C%7B%22key%22%3A%22JQ44ZMMC%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Jansen%20et%20al.%22%2C%22parsedDate%22%3A%222021-04-19%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EJansen%2C%20N.%20A.%2C%20Braden%2C%20R.%20O.%2C%20Srivastava%2C%20S.%2C%20Otness%2C%20E.%20F.%2C%20Lesca%2C%20G.%2C%20Rossi%2C%20M.%2C%20Nizon%2C%20M.%2C%20Bernier%2C%20R.%20A.%2C%20Quelin%2C%20C.%2C%20van%20Haeringen%2C%20A.%2C%20Kleefstra%2C%20T.%2C%20Wong%2C%20M.%20M.%20K.%2C%20Whalen%2C%20S.%2C%20Fisher%2C%20S.%20E.%2C%20Morgan%2C%20A.%20T.%2C%20%26%20van%20Bon%2C%20B.%20W.%20%282021%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41431-021-00888-9%27%3EClinical%20delineation%20of%20SETBP1%20haploinsufficiency%20disorder%3C%5C%2Fa%3E.%20%3Ci%3EEuropean%20Journal%20of%20Human%20Genetics%3C%5C%2Fi%3E%2C%20%3Ci%3E29%3C%5C%2Fi%3E%2C%201198%5Cu20131205.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Clinical%20delineation%20of%20SETBP1%20haploinsufficiency%20disorder%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.A.%22%2C%22lastName%22%3A%22Jansen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.O.%22%2C%22lastName%22%3A%22Braden%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Srivastava%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.F.%22%2C%22lastName%22%3A%22Otness%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%22%2C%22lastName%22%3A%22Lesca%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Rossi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Nizon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.A.%22%2C%22lastName%22%3A%22Bernier%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Quelin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22van%20Haeringen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Kleefstra%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.M.K.%22%2C%22lastName%22%3A%22Wong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Whalen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.E.%22%2C%22lastName%22%3A%22Fisher%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.T.%22%2C%22lastName%22%3A%22Morgan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.W%22%2C%22lastName%22%3A%22van%20Bon%22%7D%5D%2C%22abstractNote%22%3A%22SETBP1%20haploinsufficiency%20disorder%20%28MIM%23616078%29%20is%20caused%20by%20haploinsufficiency%20of%20SETBP1%20on%20chromosome%2018q12.3%2C%20but%20there%20has%20not%20yet%20been%20any%20systematic%20evaluation%20of%20the%20major%20features%20of%20this%20monogenic%20syndrome%2C%20assessing%20penetrance%20and%20expressivity.%20We%20describe%20the%20first%20comprehensive%20study%20to%20delineate%20the%20associated%20clinical%20phenotype%2C%20with%20findings%20from%2034%20individuals%2C%20including%2024%20novel%20cases%2C%20all%20of%20whom%20have%20a%20SETBP1%20loss-of-function%20variant%20or%20single%20%28coding%29%20gene%20deletion%2C%20confirmed%20by%20molecular%20diagnostics.%20The%20most%20commonly%20reported%20clinical%20features%20included%20mild%20motor%20developmental%20delay%2C%20speech%20impairment%2C%20intellectual%20disability%2C%20hypotonia%2C%20vision%20impairment%2C%20attention%5C%2Fconcentration%20deficits%2C%20and%20hyperactivity.%20Although%20there%20is%20a%20mild%20overlap%20in%20certain%20facial%20features%2C%20the%20disorder%20does%20not%20lead%20to%20a%20distinctive%20recognizable%20facial%20gestalt.%20As%20well%20as%20providing%20insight%20into%20the%20clinical%20spectrum%20of%20SETBP1%20haploinsufficiency%20disorder%2C%20this%20reports%20puts%20forward%20care%20recommendations%20for%20patient%20management.%22%2C%22date%22%3A%22April%2019%2C%202021%22%2C%22language%22%3A%22English%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41431-021-00888-9%22%2C%22collections%22%3A%5B%22DZWV2TAQ%22%2C%22IKEUWTRS%22%5D%2C%22dateModified%22%3A%222024-12-03T17%3A02%3A59Z%22%7D%7D%2C%7B%22key%22%3A%22Q4AW2MRZ%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Sarma%20et%20al.%22%2C%22parsedDate%22%3A%222022-06%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ESarma%2C%20A.%20S.%2C%20Wagh%2C%20S.%2C%20Dalal%2C%20A.%2C%20%26%20Ranganath%2C%20P.%20%282022%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27http%3A%5C%2F%5C%2Fiamg.in%5C%2Fgenetic_clinics%5C%2Fadm%5C%2Farticlepdf%5C%2Fvignette3_April_June_2022.pdf%27%3EA%20Novel%20Loss-of-Function%20Variant%20in%20SETBP1%20Causing%20Autosomal%5CnDominant%20Mental%20Retardation%2029%20in%20an%20Asian%20Indian%20Male%20Child%3C%5C%2Fa%3E.%20%3Ci%3EGenetic%20Clinics%3C%5C%2Fi%3E%2C%20%3Ci%3E15%3C%5C%2Fi%3E%282%29.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%20Novel%20Loss-of-Function%20Variant%20in%20SETBP1%20Causing%20Autosomal%5CnDominant%20Mental%20Retardation%2029%20in%20an%20Asian%20Indian%20Male%20Child%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.S.%22%2C%22lastName%22%3A%22Sarma%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Wagh%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ashwin%22%2C%22lastName%22%3A%22Dalal%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Ranganath%22%7D%5D%2C%22abstractNote%22%3A%22Heterozygous%20gain-of-function%20variants%20in%20the%5CnSETBP1%20gene%20are%20known%20to%20cause%20Schinzel-Giedion%5Cnsyndrome%2C%20a%20multiple%20malformation%20condition%5Cnwith%20typical%20facial%20dysmorphism.%20Heterozygous%2C%5Cnloss-of-function%20variants%20in%20the%20same%20gene%20have%5Cnbeen%20recently%20identified%20to%20cause%20a%20very%20rare%5Cngenetic%20disorder%20with%20a%20less%20severe%20phenotype%5Cncharacterized%20by%20mild%20dysmorphic%20features%2C%20mild%5Cnto%20moderate%20intellectual%20disability%20with%20speech%5Cndelay%20and%20epilepsy%2C%20referred%20to%20as%20autosomal%5Cndominant%20mental%20retardation%2029.%20Here%2C%20we%5Cndescribe%20a%20novel%20loss-of-function%20variant%20c.2622del%3B%5Cnp.%28Asp874GlufsTer87%29%20in%20the%20SETBP1%20gene%20identified%5Cnthrough%20exome%20sequencing%2C%20in%20an%20Asian%20Indian%5Cnmale%20patient%20with%20facial%20dysmorphism%2C%20global%5Cndevelopmental%20delay%2C%20and%20seizures%22%2C%22date%22%3A%22April-June%202022%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fiamg.in%5C%2Fgenetic_clinics%5C%2Fadm%5C%2Farticlepdf%5C%2Fvignette3_April_June_2022.pdf%22%2C%22collections%22%3A%5B%22DZWV2TAQ%22%5D%2C%22dateModified%22%3A%222024-12-03T17%3A00%3A26Z%22%7D%7D%5D%7D

Grönberg, D. J., Carvalho, S. L. P., Dernerova, N., Norton, P., Wong, M. M. K., & Mendoza, E. (2024). Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing. Scientific Reports, 14. https://doi.org/10.1038/s41598-024-75353-w

Oyler, H. O., Hudac, C. M., Chung, W. K., Green-Synder, L., Robertson, S., Srivastava, S., & Geye, T. (2024). SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clinical Genetics. https://doi.org/10.1111/cge.14579

Boban, I. V., Sekiguchi, F., Lozić, M., Miyake, N., Matsumoto, N., & Lozić, B. (2020). A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder. J Pediatr Genet, 11(2), 135–138.

Jansen, N. A., Braden, R. O., Srivastava, S., Otness, E. F., Lesca, G., Rossi, M., Nizon, M., Bernier, R. A., Quelin, C., van Haeringen, A., Kleefstra, T., Wong, M. M. K., Whalen, S., Fisher, S. E., Morgan, A. T., & van Bon, B. W. (2021). Clinical delineation of SETBP1 haploinsufficiency disorder. European Journal of Human Genetics, 29, 1198–1205.

Sarma, A. S., Wagh, S., Dalal, A., & Ranganath, P. (2022). A Novel Loss-of-Function Variant in SETBP1 Causing Autosomal Dominant Mental Retardation 29 in an Asian Indian Male Child. Genetic Clinics, 15(2).

Research Publications for SETBP1 gene

4714534 I9JAG8NK 1 apa 5 default 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%226SWX343M%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Whitlock%20et%20al.%22%2C%22parsedDate%22%3A%222024-01-22%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EWhitlock%2C%20J.%20H.%2C%20Wilk%2C%20E.%20J.%2C%20Howton%2C%20T.%20C.%2C%20Clark%2C%20A.%20D.%2C%20%26%20Lasseigne%2C%20B.%20%282024%29.%20%3Ci%3E%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC10760659%5C%2F%27%3EThe%20landscape%20of%20SETBP1%20gene%20expression%20and%20transcription%20factor%20activity%20across%20human%20tissues%3C%5C%2Fa%3E%3C%5C%2Fi%3E.%20%3Ci%3E19%3C%5C%2Fi%3E%281%29%2C%20e0296328.%20https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1371%5C%2Fjournal.pone.0296328%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20landscape%20of%20SETBP1%20gene%20expression%20and%20transcription%20factor%20activity%20across%20human%20tissues%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.H.%22%2C%22lastName%22%3A%22Whitlock%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.J.%22%2C%22lastName%22%3A%22Wilk%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.C.%22%2C%22lastName%22%3A%22Howton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.D.%22%2C%22lastName%22%3A%22Clark%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22BN%22%2C%22lastName%22%3A%22Lasseigne%22%7D%5D%2C%22abstractNote%22%3A%22The%20SET%20binding%20protein%201%20%28SETBP1%29%20gene%20encodes%20a%20transcription%20factor%20%28TF%29%20involved%20in%20various%20cellular%20processes.%20Variants%20in%20SETBP1%20can%20result%20in%20three%20different%20diseases%20determined%20by%20the%20introduction%20%28germline%20vs.%20somatic%29%20and%20location%20of%20the%20variant.%20Germline%20variants%20cause%20the%20ultra-rare%20pediatric%20Schinzel%20Giedion%20Syndrome%20%28SGS%29%20and%20SETBP1%20haploinsufficiency%20disorder%20%28SETBP1-HD%29%2C%20characterized%20by%20severe%20multisystemic%20abnormalities%20with%20neurodegeneration%20or%20a%20less%20severe%20brain%20phenotype%20accompanied%20by%20hypotonia%20and%20strabismus%2C%20respectively.%20Somatic%20variants%20in%20SETBP1%20are%20associated%20with%20hematological%20malignancies%20and%20cancer%20development%20in%20other%20tissues%20in%20adults.%20To%20better%20understand%20the%20tissue-specific%20mechanisms%20involving%20SETBP1%2C%20we%20analyzed%20publicly%20available%20RNA-sequencing%20%28RNA-seq%29%20data%20from%20the%20Genotype-Tissue%20Expression%20%28GTEx%29%20project.%20We%20found%20SETBP1%20and%20its%20known%20target%20genes%20were%20widely%20expressed%20across%2031%20adult%20human%20tissues.%20K-means%20clustering%20identified%20three%20distinct%20expression%20patterns%20of%20SETBP1%20targets%20across%20tissues.%20Functional%20enrichment%20analysis%20%28FEA%29%20of%20each%20cluster%20revealed%20gene%20sets%20related%20to%20transcriptional%20regulation%2C%20DNA%20binding%2C%20and%20mitochondrial%20function.%20TF%20activity%20analysis%20of%20SETBP1%20and%20its%20target%20TFs%20revealed%20tissue-specific%20TF%20activity%2C%20underscoring%20the%20role%20of%20tissue%20context-driven%20regulation%20and%20suggesting%20its%20impact%20in%20SETBP1-associated%20disease.%20In%20addition%20to%20uncovering%20tissue-specific%20molecular%20signatures%20of%20SETBP1%20expression%20and%20TF%20activity%2C%20we%20provide%20a%20Shiny%20web%20application%20to%20facilitate%20exploring%20TF%20activity%20across%20human%20tissues%20for%20758%20TFs.%20This%20study%20provides%20insight%20into%20the%20landscape%20of%20SETBP1%20expression%20and%20TF%20activity%20across%2031%20non-diseased%20human%20tissues%20and%20reveals%20tissue-specific%20expression%20and%20activity%20of%20SETBP1%20and%20its%20targets.%20In%20conjunction%20with%20the%20web%20application%20we%20constructed%2C%20our%20framework%20enables%20researchers%20to%20generate%20hypotheses%20related%20to%20the%20role%20tissue%20backgrounds%20play%20with%20respect%20to%20gene%20expression%20and%20TF%20activity%20in%20different%20disease%20contexts.%22%2C%22date%22%3A%222024-01-22%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1371%5C%2Fjournal.pone.0296328%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC10760659%5C%2F%22%2C%22collections%22%3A%5B%22I9JAG8NK%22%5D%2C%22dateModified%22%3A%222024-12-03T15%3A41%3A03Z%22%7D%7D%2C%7B%22key%22%3A%22N6IW478V%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Antonyan%20and%20Ernst%22%2C%22parsedDate%22%3A%222022-05-24%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EAntonyan%2C%20L.%2C%20%26%20Ernst%2C%20C.%20%282022%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.frontiersin.org%5C%2Farticles%5C%2F10.3389%5C%2Ffnins.2022.813430%5C%2Ffull%27%3EPutative%20Roles%20of%20SETBP1%20Dosage%20on%20the%20SET%20Oncogene%20to%20Affect%20Brain%20Development%3C%5C%2Fa%3E.%20%3Ci%3EFrontiers%20in%20Neuroscience%3C%5C%2Fi%3E%2C%20%3Ci%3E16%3C%5C%2Fi%3E%28813430%29.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Putative%20Roles%20of%20SETBP1%20Dosage%20on%20the%20SET%20Oncogene%20to%20Affect%20Brain%20Development%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Antonyan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Ernst%22%7D%5D%2C%22abstractNote%22%3A%22Mutations%20in%20SET%20BINDING%20PROTEIN%201%20%28SETBP1%29%20cause%20two%20different%20clinically%20distinguishable%20diseases%20called%20Schinzel-Giedion%20syndrome%20%28SGS%29%20or%20SETBP1%20deficiency%20syndrome%20%28SDD%29.%20Both%20disorders%20are%20disorders%20of%20protein%20dosage%2C%20where%20SGS%20is%20caused%20by%20decreased%20rate%20of%20protein%20breakdown%20due%20to%20mutations%20in%20a%20proteosome%20targeting%20domain%2C%20and%20SDD%20is%20caused%20by%20heterozygous%20loss-of-function%20mutations%20leading%20to%20haploinsufficiency.%20While%20phenotypes%20of%20affected%20individuals%20support%20a%20role%20for%20SETBP1%20in%20brain%20development%2C%20little%20is%20known%20about%20the%20mechanisms%20that%20might%20underlie%20this.%20The%20binding%20partner%20which%20gave%20SETBP1%20its%20name%20is%20SET%20and%20there%20is%20extensive%20literature%20on%20this%20important%20oncogene%20in%20non-neural%20tissues.%20Here%20we%20describe%20different%20molecular%20complexes%20in%20which%20SET%20is%20involved%20as%20well%20as%20the%20role%20of%20these%20complexes%20in%20brain%20development.%20Based%20on%20this%20information%2C%20we%20postulate%20how%20SETBP1%20protein%20dosage%20might%20influence%20these%20SET-containing%20molecular%20pathways%20and%20affect%20brain%20development.%20We%20examine%20the%20roles%20of%20SET%20and%20SETBP1%20in%20acetylation%20inhibition%2C%20phosphatase%20activity%2C%20DNA%20repair%2C%20and%20cell%20cycle%20control.%20This%20work%20provides%20testable%20hypotheses%20for%20how%20altered%20SETBP1%20protein%20dosage%20affects%20brain%20development.%22%2C%22date%22%3A%222022%20May%2024%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.frontiersin.org%5C%2Farticles%5C%2F10.3389%5C%2Ffnins.2022.813430%5C%2Ffull%22%2C%22collections%22%3A%5B%22I9JAG8NK%22%5D%2C%22dateModified%22%3A%222023-07-27T19%3A28%3A15Z%22%7D%7D%2C%7B%22key%22%3A%22694U8PS6%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Kohyanagi%20and%20Ohama%22%2C%22parsedDate%22%3A%222023-07-25%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EKohyanagi%2C%20N.%2C%20%26%20Ohama%2C%20T.%20%282023%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F37489294%5C%2F%27%3EThe%20impact%20of%20SETBP1%20mutations%20in%20neurological%20diseases%20and%20cancer%3C%5C%2Fa%3E.%20%3Ci%3EGenes%20to%20Cells%3C%5C%2Fi%3E.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20impact%20of%20SETBP1%20mutations%20in%20neurological%20diseases%20and%20cancer%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Kohyanagi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Ohama%22%7D%5D%2C%22abstractNote%22%3A%22SE%20translocation%20%28SET%29%20is%20a%20cancer-promoting%20factor%20whose%20expression%20is%20upregulated%20in%20many%20cancers.%20High%20SET%20expression%20positively%20correlates%20with%20a%20poor%20cancer%20prognosis.%20SETBP1%20%28SET-binding%20protein%201%5C%2FSEB%5C%2FMRD29%29%2C%20identified%20as%20SET-binding%20protein%2C%20is%20the%20causative%20gene%20of%20Schinzel-Giedion%20syndrome%2C%20which%20is%20characterized%20by%20severe%20intellectual%20disability%20and%20a%20distorted%20facial%20appearance.%20Mutations%20in%20these%20genetic%20regions%20are%20also%20observed%20in%20some%20blood%20cancers%2C%20such%20as%20myelodysplastic%20syndromes%2C%20and%20are%20associated%20with%20a%20poor%20prognosis.%20However%2C%20the%20physiological%20role%20of%20SETBP1%20and%20the%20molecular%20mechanisms%20by%20which%20the%20mutations%20lead%20to%20disease%20progression%20have%20not%20yet%20been%20fully%20elucidated.%20In%20this%20review%2C%20we%20will%20describe%20the%20current%20epidemiological%20data%20on%20SETBP1%20mutations%20and%20shed%20light%20on%20the%20current%20knowledge%20about%20the%20SET-dependent%20and%20-independent%20functions%20of%20SETBP1.%22%2C%22date%22%3A%222023-07-25%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F37489294%5C%2F%22%2C%22collections%22%3A%5B%22I9JAG8NK%22%5D%2C%22dateModified%22%3A%222023-07-27T19%3A27%3A41Z%22%7D%7D%2C%7B%22key%22%3A%22J4SQSH2G%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Rakhlin%20et%20al.%22%2C%22parsedDate%22%3A%222020-04%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ERakhlin%2C%20N.%2C%20Landi%2C%20N.%2C%20Lee%2C%20M.%2C%20Magnuson%2C%20J.%20S.%2C%20Naumova%2C%20O.%20Y.%2C%20Ovchinnikova%2C%20I.%20V.%2C%20%26%20Grigorenko%2C%20E.%20L.%20%282020%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2Ffull%5C%2F10.1002%5C%2Fcad.20331%27%3ECohesion%20of%20Cortical%20Language%20Networks%20During%20Word%20Processing%20Is%20Predicted%20by%20a%20Common%20Polymorphism%20in%20the%20SETBP1%20Gene%3C%5C%2Fa%3E.%20%3Ci%3ENew%20Directions%20for%20Child%20and%20Adolescent%20Development%3C%5C%2Fi%3E%2C%20%3Ci%3E2020%3C%5C%2Fi%3E%28169%29.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Cohesion%20of%20Cortical%20Language%20Networks%20During%20Word%20Processing%20Is%20Predicted%20by%20a%20Common%20Polymorphism%20in%20the%20SETBP1%20Gene%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Rakhlin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Landi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Lee%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.S.%22%2C%22lastName%22%3A%22Magnuson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22O.Y.%22%2C%22lastName%22%3A%22Naumova%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22I.V.%22%2C%22lastName%22%3A%22Ovchinnikova%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.L.%22%2C%22lastName%22%3A%22Grigorenko%22%7D%5D%2C%22abstractNote%22%3A%22The%20etiological%20mechanisms%20of%20the%20genetic%20underpinnings%20of%20developmental%20language%20disorder%20%28DLD%29%20are%20unknown%2C%20in%20part%20due%20to%20the%20behavioral%20heterogeneity%20of%20the%20disorder%27s%20manifestations.%20In%20this%20study%2C%20we%20explored%20an%20association%20between%20the%20SETBP1%20gene%20%2818q21.1%29%2C%20revealed%20in%20a%20genome%5Cu2010wide%20association%20study%20of%20DLD%20in%20a%20geographically%20isolated%20population%2C%20and%20brain%20network%5Cu2010based%20endophenotypes%20of%20functional%20intracortical%20coherence%20between%20major%20language%5Cu2010related%20brain%20areas.%20We%20analyzed%20electroencephalogram%20%28EEG%29%20data%20from%20thirty%5Cu2010nine%20children%20%28twenty%5Cu2010three%20with%2C%20sixteen%20without%20DLD%29%20aged%207.17%5Cu201315.83%20years%20acquired%20during%20an%20auditory%20picture%5Cu2013word%20matching%20paradigm.%20Variation%20at%20a%20single%20nucleotide%20polymorphism%20in%20the%20intronic%20region%20of%20the%20SETBP1%20gene%2C%20rs8085464%2C%20explained%2019%25%20of%20the%20variance%20in%20intracortical%20network%20cohesion%20%28p%20%3D%20.00478%29.%20This%20suggests%20that%20the%20development%20of%20these%20brain%20networks%20might%20be%20partially%20associated%20with%20the%20variation%20in%20SETBP1.%22%2C%22date%22%3A%22April%202020%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2Ffull%5C%2F10.1002%5C%2Fcad.20331%22%2C%22collections%22%3A%5B%22I9JAG8NK%22%5D%2C%22dateModified%22%3A%222020-10-02T02%3A21%3A38Z%22%7D%7D%2C%7B%22key%22%3A%22EDA3HTG3%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Perdue%20et%20al.%22%2C%22parsedDate%22%3A%222018-08-22%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EPerdue%2C%20M.%20V.%2C%20SaraMascheretti%2C%20S.%2C%20Sergey%20A.Kornilov%2C%20S.%20A.%20K.%2C%20Jasi%5Cu0144ska%2C%20K.%20K.%2C%20Ryherd%2C%20K.%2C%20Mencl%2C%20W.%20E.%2C%20Frost%2C%20S.%20J.%2C%20Grigorenko%2C%20E.%20L.%2C%20Pugh%2C%20K.%20R.%2C%20%26%20Landi%2C%20N.%20%282018%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0028393218303269%27%3ECommon%20variation%20within%20the%20SETBP1%20gene%20is%20associated%20with%20reading-related%20skills%20and%20patterns%20of%20functional%20neural%20activation%3C%5C%2Fa%3E.%20%3Ci%3ENeuropsychologia%3C%5C%2Fi%3E.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Common%20variation%20within%20the%20SETBP1%20gene%20is%20associated%20with%20reading-related%20skills%20and%20patterns%20of%20functional%20neural%20activation%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.V.%22%2C%22lastName%22%3A%22Perdue%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22SaraMascheretti%22%2C%22lastName%22%3A%22SaraMascheretti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sergey%20A.Kornilov%22%2C%22lastName%22%3A%22Sergey%20A.Kornilov%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22K.K.%22%2C%22lastName%22%3A%22Jasi%5Cu0144ska%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22K.%22%2C%22lastName%22%3A%22Ryherd%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22W.E.%22%2C%22lastName%22%3A%22Mencl%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.J.%22%2C%22lastName%22%3A%22Frost%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.L.%22%2C%22lastName%22%3A%22Grigorenko%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22K.R.%22%2C%22lastName%22%3A%22Pugh%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Landi%22%7D%5D%2C%22abstractNote%22%3A%22Epidemiological%20population%20studies%20highlight%20the%20presence%20of%20substantial%20individual%20variability%20in%20reading%20skill%2C%20with%20approximately%205%5Cu201310%25%20of%20individuals%20characterized%20as%20having%20specific%20reading%20disability%20%28SRD%29.%20Despite%20reported%20substantial%20heritability%2C%20typical%20for%20a%20complex%20trait%2C%20the%20specifics%20of%20the%20connections%20between%20reading%20and%20the%20genome%20are%20not%20understood.%20Recently%2C%20the%20SETBP1%20gene%20has%20been%20implicated%20in%20several%20complex%20neurodevelopmental%20syndromes%20and%20disorders%20that%20impact%20language.%20Here%2C%20we%20examined%20the%20relationship%20between%20common%20polymorphisms%20in%20this%20gene%2C%20reading%2C%20and%20reading%20associated%20behaviors%20using%20data%20from%20an%20ongoing%20project%20on%20the%20genetic%20basis%20of%20SRD%20%28n%5Cu202f%3D%5Cu202f135%29.%20In%20addition%2C%20an%20exploratory%20analysis%20was%20conducted%20to%20examine%20the%20relationship%20between%20SETBP1%20and%20brain%20activation%20using%20functional%20magnetic%20resonance%20imaging%20%28fMRI%3B%20n%5Cu202f%3D%5Cu202f73%29.%20Gene-based%20analyses%20revealed%20a%20significant%20association%20between%20SETBP1%20and%20phonological%20working%20memory%2C%20with%20rs7230525%20as%20the%20strongest%20associated%20single%20nucleotide%20polymorphism%20%28SNP%29.%20fMRI%20analysis%20revealed%20that%20the%20rs7230525-T%20allele%20is%20associated%20with%20functional%20neural%20activation%20during%20reading%20and%20listening%20to%20words%20and%20pseudowords%20in%20the%20right%20inferior%20parietal%20lobule%20%28IPL%29.%20These%20findings%20suggest%20that%20common%20genetic%20variation%20within%20SETBP1%20is%20associated%20with%20reading%20behavior%20and%20reading-related%20brain%20activation%20patterns%20in%20the%20general%20population.%22%2C%22date%22%3A%22August%2022%2C%202018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0028393218303269%22%2C%22collections%22%3A%5B%22I9JAG8NK%22%5D%2C%22dateModified%22%3A%222019-03-06T17%3A16%3A31Z%22%7D%7D%5D%7D

Whitlock, J. H., Wilk, E. J., Howton, T. C., Clark, A. D., & Lasseigne, B. (2024). The landscape of SETBP1 gene expression and transcription factor activity across human tissues. 19(1), e0296328. https://doi.org/10.1371/journal.pone.0296328

Antonyan, L., & Ernst, C. (2022). Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development. Frontiers in Neuroscience, 16(813430).

Kohyanagi, N., & Ohama, T. (2023). The impact of SETBP1 mutations in neurological diseases and cancer. Genes to Cells.

Rakhlin, N., Landi, N., Lee, M., Magnuson, J. S., Naumova, O. Y., Ovchinnikova, I. V., & Grigorenko, E. L. (2020). Cohesion of Cortical Language Networks During Word Processing Is Predicted by a Common Polymorphism in the SETBP1 Gene. New Directions for Child and Adolescent Development, 2020(169).

Perdue, M. V., SaraMascheretti, S., Sergey A.Kornilov, S. A. K., Jasińska, K. K., Ryherd, K., Mencl, W. E., Frost, S. J., Grigorenko, E. L., Pugh, K. R., & Landi, N. (2018). Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation. Neuropsychologia.

Research Publications for Schinzel-Giedion Syndrome (SGS)

4714534 93ZFM8JM 1 apa 5 default 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22CN2MJHUH%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Whitlock%20et%20al.%22%2C%22parsedDate%22%3A%222023-11-27%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EWhitlock%2C%20J.%20H.%2C%20Soelter%2C%20T.%20M.%2C%20Howton%2C%20T.%20C.%2C%20Wilk%2C%20E.%20J.%2C%20Oza%2C%20V.%20H.%2C%20%26%20Lasseigne%2C%20B.%20N.%20%282023%29.%20%3Ci%3E%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2F10.1111%5C%2Fjcmm.18001%27%3ECell-type-specific%20gene%20expression%20and%20regulation%20in%20the%20cerebral%20cortex%20and%20kidney%20of%20atypical%20Setbp1S858R%20Schinzel%20Giedion%20Syndrome%20mice%3C%5C%2Fa%3E%3C%5C%2Fi%3E.%20%3Ci%3E27%3C%5C%2Fi%3E%2822%29%2C%203565%5Cu20133577.%20https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2Fjcmm.18001%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Cell-type-specific%20gene%20expression%20and%20regulation%20in%20the%20cerebral%20cortex%20and%20kidney%20of%20atypical%20Setbp1S858R%20Schinzel%20Giedion%20Syndrome%20mice%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.H.%22%2C%22lastName%22%3A%22Whitlock%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.M.%22%2C%22lastName%22%3A%22Soelter%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.C.%22%2C%22lastName%22%3A%22Howton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.J.%22%2C%22lastName%22%3A%22Wilk%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%20H.%22%2C%22lastName%22%3A%22Oza%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.N.%22%2C%22lastName%22%3A%22Lasseigne%22%7D%5D%2C%22abstractNote%22%3A%22Schinzel%20Giedion%20Syndrome%20%28SGS%29%20is%20an%20ultra-rare%20autosomal%20dominant%20Mendelian%20disease%20presenting%20with%20abnormalities%20spanning%20multiple%20organ%20systems.%20The%20most%20notable%20phenotypes%20involve%20severe%20developmental%20delay%2C%20progressive%20brain%20atrophy%2C%20and%20drug-resistant%20seizures.%20SGS%20is%20caused%20by%20spontaneous%20variants%20in%20SETBP1%2C%20which%20encodes%20for%20the%20epigenetic%20hub%20SETBP1%20transcription%20factor%20%28TF%29.%20SETBP1%20variants%20causing%20classical%20SGS%20cluster%20at%20the%20degron%2C%20disrupting%20SETBP1%20protein%20degradation%20and%20resulting%20in%20toxic%20accumulation%2C%20while%20those%20located%20outside%20cause%20milder%20atypical%20SGS.%20Due%20to%20the%20multisystem%20phenotype%2C%20we%20evaluated%20gene%20expression%20and%20regulatory%20programs%20altered%20in%20atypical%20SGS%20by%20snRNA-seq%20of%20the%20cerebral%20cortex%20and%20kidney%20of%20Setbp1S858R%20heterozygous%20mice%20%28corresponds%20to%20the%20human%20likely%20pathogenic%20SETBP1S867R%20variant%29%20compared%20to%20matched%20wild-type%20mice%20by%20constructing%20cell-type-specific%20regulatory%20networks.%20Setbp1%20was%20differentially%20expressed%20in%20excitatory%20neurons%2C%20but%20known%20SETBP1%20targets%20were%20differentially%20expressed%20and%20regulated%20in%20many%20cell%20types.%20Our%20findings%20suggest%20molecular%20drivers%20underlying%20neurodevelopmental%20phenotypes%20in%20classical%20SGS%20also%20drive%20atypical%20SGS%2C%20persist%20after%20birth%2C%20and%20are%20present%20in%20the%20kidney.%20Our%20results%20indicate%20SETBP1%27s%20role%20as%20an%20epigenetic%20hub%20leads%20to%20cell-type-specific%20differences%20in%20TF%20activity%2C%20gene%20targeting%2C%20and%20regulatory%20rewiring.%20This%20research%20provides%20a%20framework%20for%20investigating%20cell-type-specific%20variant%20impact%20on%20gene%20expression%20and%20regulation.%22%2C%22date%22%3A%222023-11-27%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1111%5C%2Fjcmm.18001%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2F10.1111%5C%2Fjcmm.18001%22%2C%22collections%22%3A%5B%2293ZFM8JM%22%5D%2C%22dateModified%22%3A%222024-12-03T15%3A40%3A43Z%22%7D%7D%2C%7B%22key%22%3A%2288F6WSMJ%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Zheng%20et%20al.%22%2C%22parsedDate%22%3A%222024%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EZheng%2C%20J.%2C%20Gu%2C%20M.%2C%20%26%20Xu%2C%20X.%20%282024%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fbmcpediatr.biomedcentral.com%5C%2Fcounter%5C%2Fpdf%5C%2F10.1186%5C%2Fs12887-024-04779-y.pdf%27%3ENovel%20SETBP1%20D874V%20adjacent%20to%20the%20degron%20causes%20canonical%20schinzel%5Cu2013giedion%20syndrome%3A%20a%20case%20report%20and%20review%20of%20the%20literature%3C%5C%2Fa%3E.%20%3Ci%3EBMC%20Pediatrics%3C%5C%2Fi%3E%2C%20%3Ci%3E24%3C%5C%2Fi%3E%2C%20309.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Novel%20SETBP1%20D874V%20adjacent%20to%20the%20degron%20causes%20canonical%20schinzel%5Cu2013giedion%20syndrome%3A%20a%20case%20report%20and%20review%20of%20the%20literature%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Zheng%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Gu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Xiaoyan%22%2C%22lastName%22%3A%22Xu%22%7D%5D%2C%22abstractNote%22%3A%22Schinzel-Giedion%20syndrome%20%28SGS%29%20is%20a%20severe%20multisystem%20disorder%20characterized%20by%20distinctive%20facial%20features%2C%20profound%20intellectual%20disability%2C%20refractory%20epilepsy%2C%20cortical%20visual%20impairment%2C%20hearing%20loss%2C%20and%20various%20congenital%20anomalies.%20SGS%20is%20attributed%20to%20gain-of-function%20%28GoF%29%20variants%20in%20the%20SETBP1%20gene%2C%20with%20reported%20variants%20causing%20canonical%20SGS%20located%20within%20a%2012%20bp%20hotspot%20region%20encoding%20SETBP1%20residues%20aa868-871%20%28degron%29.%20Here%2C%20we%20describe%20a%20case%20of%20typical%20SGS%20caused%20by%20a%20novel%20heterozygous%20missense%20variant%2C%20D874V%2C%20adjacent%20to%20the%20degron.%20The%20female%20patient%20was%20diagnosed%20in%20the%20neonatal%20period%20and%20presented%20with%20characteristic%20facial%20phenotype%20%28midface%20retraction%2C%20prominent%20forehead%2C%20and%20low-set%20ears%29%2C%20bilateral%20symmetrical%20talipes%20equinovarus%2C%20overlapping%5Cntoes%2C%20and%20severe%20bilateral%20hydronephrosis%20accompanied%20by%20congenital%20heart%20disease%2C%20consistent%20with%20canonical%20SGS.%20This%20is%20the%20first%20report%20of%20a%20typical%20SGS%20caused%20by%20a%2C%20SETBP1%20non-degron%20missense%20variant.%20This%20case%20expands%20the%20genetic%20spectrum%20of%20SGS%20and%20provides%20new%20insights%20into%20genotype-phenotype%20correlations.%22%2C%22date%22%3A%222024%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fbmcpediatr.biomedcentral.com%5C%2Fcounter%5C%2Fpdf%5C%2F10.1186%5C%2Fs12887-024-04779-y.pdf%22%2C%22collections%22%3A%5B%2293ZFM8JM%22%5D%2C%22dateModified%22%3A%222024-12-03T15%3A37%3A16Z%22%7D%7D%2C%7B%22key%22%3A%22EBX34KP3%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Carvalho%20et%20al.%22%2C%22parsedDate%22%3A%222014-08-29%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ECarvalho%2C%20E.%2C%20Honjo%2C%20R.%2C%20Magalha%5Cu02dces%2C%20M.%2C%20Chong%2C%20K.%2C%20%26%20Bertol%2C%20D.%20%282014%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F25663181%5C%2F%27%3ESchinzel%5Cu2013Giedion%20Syndrome%20in%20Two%20Brazilian%20Patients%3A%20Report%20of%20a%20Novel%20Mutation%20in%20SETBP1%20and%20Literature%20Review%20of%20the%20Clinical%20Features%3C%5C%2Fa%3E.%20%3Ci%3EAmerican%20Journal%20of%20Medical%20Genetics%3C%5C%2Fi%3E%2C%20%3Ci%3EPart%20A%3C%5C%2Fi%3E%28167A%29%2C%201039%5Cu20131046.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Schinzel%5Cu2013Giedion%20Syndrome%20in%20Two%20Brazilian%20Patients%3A%20Report%20of%20a%20Novel%20Mutation%20in%20SETBP1%20and%20Literature%20Review%20of%20the%20Clinical%20Features%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ellaine%22%2C%22lastName%22%3A%22Carvalho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rachel%22%2C%22lastName%22%3A%22Honjo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Monize%22%2C%22lastName%22%3A%22Magalha%5Cu02dces%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kim%22%2C%22lastName%22%3A%22Chong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Debora%22%2C%22lastName%22%3A%22Bertol%22%7D%5D%2C%22abstractNote%22%3A%22Schinzel%5Cu2013Giedion%20syndrome%20is%20a%20rare%20autosomal%20dominant%20disorder%20comprising%20postnatal%20growth%20failure%2C%20profound%20developmental%20delay%2C%20seizures%2C%20facial%20dysmorphisms%2C%20genitourinary%2C%20skeletal%2C%20neurological%2C%20and%20cardiac%20defects.%20It%20was%20recently%20revealed%20that%20Schinzel%5Cu2013Giedion%20syndrome%20is%20caused%20by%20de%20novo%20mutations%20in%20SETBP1%2C%20but%20there%20are%20few%20reports%20of%20this%5Cnsyndrome%20with%20molecular%20confirmation.%20We%20describe%20two%20unrelated%20Brazilian%20patients%20with%20Schinzel%5Cu2013Giedion%20syndrome%2C%20one%20of%20them%20carrying%20a%20novel%20mutation.%20We%20also%20present%20a%20review%20of%20clinical%20manifestations%20of%20the%20syndrome%2C%20comparing%20our%20cases%20to%20patients%20reported%20in%20literature%20emphasizing%20the%20importance%20of%20the%20facial%20gestalt%20associated%20with%20neurological%20involvement%20for%20diagnostic%20suspicion%20of%20this%20syndrome.%22%2C%22date%22%3A%222014-08-29%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F25663181%5C%2F%22%2C%22collections%22%3A%5B%2293ZFM8JM%22%5D%2C%22dateModified%22%3A%222024-02-06T20%3A30%3A51Z%22%7D%7D%2C%7B%22key%22%3A%2298BX5VXW%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Banfi%20et%20al.%22%2C%22parsedDate%22%3A%222021-06-30%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EBanfi%2C%20F.%2C%20Rubio%2C%20A.%2C%20Zaghi%2C%20M.%2C%20Massimino%2C%20L.%2C%20Piazza%2C%20R.%2C%20Mologni%2C%20L.%2C%20Broccoli%2C%20V.%2C%20%26%20Sessa%2C%20A.%20%282021%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41467-021-24391-3%27%3ESETBP1%20accumulation%20induces%20P53%20inhibition%20and%20genotoxic%20stress%20in%20neural%20progenitors%20underlying%20neurodegeneration%20in%20Schinzel-Giedion%20syndrome%3C%5C%2Fa%3E.%20%3Ci%3ENature%20Communications%3C%5C%2Fi%3E%2C%20%3Ci%3E12%3C%5C%2Fi%3E%284050%29.%20https%3A%5C%2F%5C%2Fdoi.org%5C%2Fhttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1038%5C%2Fs41467-021-24391-3%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22SETBP1%20accumulation%20induces%20P53%20inhibition%20and%20genotoxic%20stress%20in%20neural%20progenitors%20underlying%20neurodegeneration%20in%20Schinzel-Giedion%20syndrome%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Banfi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Rubio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Zaghi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Massimino%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Piazza%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Mologni%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%22%2C%22lastName%22%3A%22Broccoli%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Sessa%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%22June%2030%2C%202021%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1038%5C%2Fs41467-021-24391-3%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fs41467-021-24391-3%22%2C%22collections%22%3A%5B%2293ZFM8JM%22%5D%2C%22dateModified%22%3A%222021-10-19T18%3A48%3A01Z%22%7D%7D%2C%7B%22key%22%3A%22NMVHR2UJ%22%2C%22library%22%3A%7B%22id%22%3A4714534%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Herenger%20et%20al.%22%2C%22parsedDate%22%3A%222015-09%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EHerenger%2C%20Y.%2C%20Stoetzel%2C%20C.%2C%20Schaefer%2C%20E.%2C%20Scheidecker%2C%20S.%2C%20Mani%5Cu00e8re%2C%20M.%20C.%2C%20Pelletier%2C%20V.%2C%20%26%20Dollfus%2C%20H.%20%282015%29.%20%3Ca%20class%3D%27zp-ItemURL%27%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F26188272%5C%2F%27%3ELong%20term%20follow%20up%20of%20two%20independent%20patients%20with%20Schinzel-Giedion%20carrying%20SETBP1%20mutations%3C%5C%2Fa%3E.%20%3Ci%3EEuropean%20Journal%20of%20Medical%20Genetics%3C%5C%2Fi%3E%2C%20%3Ci%3E58%3C%5C%2Fi%3E%289%29%2C%20479%5Cu2013487.%20%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Long%20term%20follow%20up%20of%20two%20independent%20patients%20with%20Schinzel-Giedion%20carrying%20SETBP1%20mutations%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Y.%22%2C%22lastName%22%3A%22Herenger%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Stoetzel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Schaefer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Scheidecker%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.C.%22%2C%22lastName%22%3A%22Mani%5Cu00e8re%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%22%2C%22lastName%22%3A%22Pelletier%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.%22%2C%22lastName%22%3A%22Dollfus%22%7D%5D%2C%22abstractNote%22%3A%22Schinzel-Giedion%20syndrome%20%28SGS%2C%20MIM%20%23269150%29%20is%20a%20rare%20syndrome%20characterized%20by%20severe%20intellectual%20disability%2C%20typical%20facial%20gestalt%2C%20hypertrichosis%20and%20multiple%20congenital%20malformations%20including%20skeletal%2C%20genitourinary%2C%20renal%20and%20cardiac%20abnormalities.%20The%20prognosis%20of%20SGS%20is%20very%20severe%20and%20death%20occurs%20generally%20within%20a%20few%20years%20after%20birth.%20In%202002%2C%20we%20reported%202%20children%20with%20SGS%20with%20a%20follow-up%20of%203%20years.%20They%20presented%20a%20very%20similar%20and%20particular%20phenotype%20associating%20distinctive%20facial%20gestalt%2C%20severe%20developmental%20delay%2C%20megacalycosis%2C%20progressive%20neurodegeneration%2C%20alacrimi%2C%20corneal%20hypoesthesia%20and%20deafness.%20Furthermore%2C%20temporal%20bone%20imaging%20revealed%20a%20tuning-fork%20malformation%20of%20the%20stapes.%20In%202010%2C%20Hoischen%20et%20al.%20identified%20in%20SGS%20patients%20pathogenic%20heterozygous%20de%20novo%20mutations%20in%20SETBP1.%20We%20sequenced%20SETBP1%20in%20our%20patients%20and%20found%20the%20previously%20reported%20c.2608G%3EA%20%28p.Gly870Ser%29%20mutation%20in%20both%20children.%20Since%202002%2C%20one%20of%20our%20patients%20died%20at%206%20years%20old%20and%20the%20other%20patient%20is%20still%20alive%20at%2015%20years%20old.%20Such%20a%20life%20expectancy%20has%20never%20been%20reported%20so%20far.%20We%20describe%20herein%20the%20follow%20up%20of%20the%202%20children%20during%206%20and%2015%20years%20respectively.%20This%20article%20gives%20further%20evidence%20of%20the%20implication%20of%20SETBP1%20as%20the%20major%20gene%20of%20SGS%2C%20and%20reports%20the%20previously%20unseen%20natural%20evolution%20of%20the%20disease%20in%20a%2015%20years%20old%20patient.%22%2C%22date%22%3A%22September%202015%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fpubmed.ncbi.nlm.nih.gov%5C%2F26188272%5C%2F%22%2C%22collections%22%3A%5B%2293ZFM8JM%22%5D%2C%22dateModified%22%3A%222021-03-13T23%3A54%3A29Z%22%7D%7D%5D%7D

Whitlock, J. H., Soelter, T. M., Howton, T. C., Wilk, E. J., Oza, V. H., & Lasseigne, B. N. (2023). Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice. 27(22), 3565–3577. https://doi.org/10.1111/jcmm.18001

Zheng, J., Gu, M., & Xu, X. (2024). Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature. BMC Pediatrics, 24, 309.

Carvalho, E., Honjo, R., Magalha˜es, M., Chong, K., & Bertol, D. (2014). Schinzel–Giedion Syndrome in Two Brazilian Patients: Report of a Novel Mutation in SETBP1 and Literature Review of the Clinical Features. American Journal of Medical Genetics, Part A(167A), 1039–1046.

Banfi, F., Rubio, A., Zaghi, M., Massimino, L., Piazza, R., Mologni, L., Broccoli, V., & Sessa, A. (2021). SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome. Nature Communications, 12(4050). https://doi.org/https://doi.org/10.1038/s41467-021-24391-3

Herenger, Y., Stoetzel, C., Schaefer, E., Scheidecker, S., Manière, M. C., Pelletier, V., & Dollfus, H. (2015). Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. European Journal of Medical Genetics, 58(9), 479–487.

Read More on Schinzel-Giedion Syndrome (SGS) > (overexpression of SETBP1)

Research Publications for SETBP1-related cancer (not associated with SETBP1-HD)

4714534 87FB37UU 1 apa 5 default 1 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

Piazza, R., Magistroni, V., Redaelli, S., Mauri, M., Massimino, L., Sessa, A., Peronaci, M., Lalowski, M., Soliymani, R., Mezzatesta, C., Pirola, A., Banfi, F., Rubio, A., Rea, D., Stagno, F., Usala, E., Martino, B., Campiotti, L., Merli, M., … Gambacorti-Passerini, C. (2018). SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub. Nature Communications, 9(2192).

Stieglitz, E., Troup, C. B., Gelston, L. C., Haliburton, J., Chow, E. D., Yu, K. B., Akutagawa, J., Taylor-Weiner, A. N., Liu, Y. L., Wang, Y., Beckman, K., Emanuel, P. D., Braun, B. S., Abate, A., Gerbing, R. B., Alonzo, T. A., & Loh, M. L. (2015). Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. Blood, 125(3), 516–524.

Read More on SETBP1-related cancer > (not associated with SETBP1-HD)