Journal article

Clinical delineation of SETBP1 haploinsufficiency disorder

Nadieh A Jansen, Ruth O Braden, Siddharth Srivastava, Erin F Otness, Gaetan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael A Bernier, Chloe Quelin, Arie van Haeringen, Tjitske Kleefstra, Maggie MK Wong, Sandra Whalen, Simon E Fisher, Angela T Morgan, Bregje W van Bon

EUROPEAN JOURNAL OF HUMAN GENETICS | SPRINGERNATURE | Published : 2021

Abstract

SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, assessing penetrance and expressivity. We describe the first comprehensive study to delineate the associated clinical phenotype, with findings from 34 individuals, including 24 novel cases, all of whom have a SETBP1 loss-of-function variant or single (coding) gene deletion, confirmed by molecular diagnostics. The most commonly reported clinical features included mild motor developmental delay, speech impairment, intellectual disability, hypotonia, vision impairment, attention/con..

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Grants

Funding Acknowledgements

The authors are grateful to all the patients and their parents who collaborated on our research and gave their consent to share the clinical data and/or photos. SEF & MMK are supported by the Max Planck Society.