Research Publications for SETBP1-HD

Shaw, N., Chen, K., Farley, K., Hedges, M., Forbes, C., Baynam, G., Lassmann, T., & Fear, V. (2024). Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling. Molecular Autism, 15(1), 42. https://doi.org/10.1186/s13229-024-00625-1

Oyler HO, Hudac CM, Chung WK, 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/doi: 10.1111/cge.14579

Wang, L., Wang, X., & Yang, B. (2023). Novel SETBP1 mutation in a chinese family with intellectual disability. 16(1), 233. https://doi.org/10.1186/s12920-023-01649-x

Wang, H., Gao, Y., Qin, L., Zhang, M., Shi, W., Feng, Z., Guo, L., Zhu, B., & Liao, S. (2023). Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis. Orphanet Journal of Rare Diseases, 18(107).

Timberlake, A.T., McGee S., Allington G., & Kruszka P. (2023). De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. The American Journal of Human Genetics, 110(5), 846–862.

Cardo, L. F., Daniel C. de la Fuente, & Meng Li. (2023). Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder. Molecular Autism, 14(8).

Meziane, H., Birling, M., Wendling, O., & Herault, Y. (2022). Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines, 10(12), 3148.

Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Kirrie Ballard, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, & Angela T. Morgan. (2022). Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry.

Zhou Y., Quan Y., Wu Y., & Zhang Y. (2022). Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1. The Journal of International Medical Research, 50(9).

Sarma, A. S., Wagh, S., Dalal, A., & Ranganath, Prajnya. (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).

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

Morgan, A., Braden, R., Wong, M. M. K., Collin, E., Amor, D., Liegeois, F., Srivastava, S., Vogel, A., Bizaoui, V., Ranguin, K., Fisher, S. E., & van Bon, B. W. (2021). Speech and language deficits are central to SETBP1 haploinsufficiency disorder (SETBP1-HD). European Journal of Human Genetics, 29(29), 1216–1225. https://doi.org/10.1038/s41431-021-00894-x

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.

Leonardi, E., Bettella, E., Pelizza, M. F., Aspromonte, M. C., Polli, R., Boniver, C., Sartori, S., Milani, D., & Murgia, A. (2020). Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With Developmental and Epileptic Encephalopathy. Frontiers in Neurology, 11, 5934–5946.

Alsubaie, L. M., Alsuwat, H. S., AbdulAzeez, S., & Borgio, J. F. (2020). Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study. Molecular Biology Reports. https://doi.org/10.1007/s11033-020-05832-6

Boban, I., 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.

Hildebrand, S., Jackson, V., Scerri, T. S., Reyk, O. V., Coleman, M., Braden, R. O., Turner, S., Rigbye, K. A., Scheffer, I. E., Bahlo, M., & Morgan, A. T. (2020). Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. Neurology, 94(20), e2148–e2167.

Eising, E., Carrion-Castillo, A., Vino, A., Stand, E. A., Jakielski, K. J., Scerri, T. S., Hildebrand, M. S., Webster, R., Ma, A., Mazoyer, B., Francks, C., Bahlo, M., Scheffer, I. E., Morgan, A. T., Shriberg, L. D., & Fisher, S. E. (2018). A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular Psychiatry.

Chen, X. S., Reader, R. H., Hoischen, A., Veltman, J. A., Simpson, N. H., Francks, C., Newbury, D. F., & Fisher, S. E. (2017). Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment. Scientific Reports, 7, 46105.

SETBP1 disorder. (2017). National Institutes of Health-> National Center for Advancing Translational Sciences -> Genetic and Rare Diseases Information Center (GARD).

Kornilov, S. A., Rakhlin, N., Koposov, R., Lee, M., Yrigollen, C., Caglayan, A., Magnuson, J. S., Mane, S., Chang, J., & Grigorenko, E. L. (2016). Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Pediatrics, 137(4), 2015–2469.

Barnett, C. P., & van Bon, B. W. M. (2015). Monogenic and chromosomal causes of isolated speech and language impairment. Journal of Medical Genetics, 52(11), 719–729. https://doi.org/10.1136/jmedgenet-2015-103161

Hamdan, F. F., Srour, M., Capo-Chichi, J., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., Henrion, E., Dionne-Laporte, A., Fougerat, A., Pshezhetsky, A. V., Venkateswaran, S., Rouleau, G. A., & Michaud, J. L. (2014). De novo mutations in moderate or severe intellectual disability. PLoS Genetics, 10(10). https://doi.org/10.1371/journal.pgen.1004772

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., Pfundt, R., Krumm, N., Carvill, G. L., Li, D., Amaral, D., Brown, N., Lockhart, P. L., … Eichler, E. E. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics, 46(10), 1063–1071.

Hoischen, A., Krumm, N., & Eichler, E. E. (2014). Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nature Neuroscience, 17(6), 764–772. https://doi.org/10.1038/nn.3703

O'Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J. B., Turner, E. H., Levy, R., O'Day, D. R., Krumm, N., Coe, B. P., Martin, B. K., Borenstein, E., … Shendure, J. (2012). Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science, 338(6114), 1619–1622.

O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Kumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J. M., Borenstein, E., Rieder, M. J., … Eichler, E. E. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485(7397), 246–250.

Marseglia, G., Scordo, M. R., Pescucci, C., Nannetti, G., Biagini, E., Scandurra, V., Gerundino, F., Magi, A., Benelli, M., & Torricelli, F. (2012). 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. European Journal of Medical Genetics, 55(3), 216–221.

Filges, I., Shimojima, K., Okamoto, N., Röthlisberger, B., Weber, P., Huber, A. R., Nishizawa, T., Datta, A. N., Miny, P., & Yamamoto, T. (2011). Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of Medical Genetics, 48(2), 117–122.

Duarte, C. S., Bordin, I. A. S., de Oliveira, A., & Bird, H. (2003). The CBCL and the Identification of Children with Autism and Related Conditions in Brazil: Pilot Findings. Journal of Autism and Developmental Disorders, 33(6), 703–707.

Wong, M. M., Kampen, R. A., Braden, R. O., Alagöz, G., Hildebrand, M. S., Barnett, C., Barnett, M., Brusco, A., & Fisher, S. F. (n.d.). SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder. https://doi.org/10.1101/2022.03.04.22271462