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Research: Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature

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Research: Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature

Eur J Hum Genet

. 2021 Oct 14. doi: 10.1038/s41431-021-00961-3. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/34645992/

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature

Oliver Murch 1Vani Jain 2Andreas Benneche 3Kay Metcalfe 4Emma Hobson 5Katrina Prescott 5Kate Chandler 4Neeti Ghali 6Jenny Carmichael 7Nicola C Foulds 8Julie Paulsen 9Marie F Smeland 10Siren Berland 3Andrew E Fry 2 11Affiliations expand

Abstract

White-Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental Disorders study and clinical testing, we identified 12 individuals from 10 families with pathogenic or likely pathogenic variants in POGZ (eight de novo and two inherited). Most individuals had delayed development and/or intellectual disability. We analyzed the clinical findings in our series and combined it with data from 89 previously reported individuals. The results demonstrate WHSUS is associated with variable developmental delay or intellectual disability, increased risk of obesity, visual defects, craniofacial dysmorphism, sensorineural hearing loss, feeding problems, seizures, and structural brain malformations. Our series includes further individuals with rod-cone dystrophy, cleft lip and palate, congenital diaphragmatic hernia, and duplicated renal drainage system, suggesting these are rare complications of WHSUS. In addition, we describe an individual with a novel, de novo missense variant in POGZ and features of WHSUS. Our work further delineates the phenotypic spectrum of WHSUS highlighting the variable severity of this disorder and the observation of familial pathogenic POGZ variants.

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