Check out the first publication dedicated to documenting SETBP1 disorder

The first publication dedicated to documenting the SETBP1 disorder phenotype/presentation just published in the European Journal of Human Genetics. Our very own Medical and Scientific Advisory Board member, Dr Brejge van Bon, spearheaded this achievement. This publication documents 34 individuals with SETBP1 haploinsufficiency disorder (SETBP1 disorder).

“The most commonly reported clinical features included mild motor developmental delay, speech impairment, intellectual disability, hypotonia, vision impairment, attention/concentration deficits and hyperactivity…As well as providing insight into the clinical spectrum of SETBP1 haploinsufficiency disorder, this report puts forward care recommendations for patient management.”

This publication is a huge accomplishment for our SETBP1 community! This paper shows that there are far more cases than are currently documented. It shows that the phenotype is broader than the cases currently published. It provides recommendations for patient management and will serve as an excellent guide for building out a more complete standards of care document.

This paper serve as an invaluable tool when new patients are diagnosed, as well as, for helping patients get insurance coverage for therapies and for medical specialists, educators and therapists to better understand the condition.

The document also puts forth the name recommendation of SETBP1 haploinsufficiency disorder to describe the disorder where individuals have a loss-of-function SETBP1 mutation in 1 of 2 copies of the SETBP1 gene.

The publication is called Clinical delineation of SETBP1 haploninsufficiency disorder. You can read the publication at https://www.nature.com/articles/s41431-021-00888-9.