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

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 in

SUBMITTER: Murch O 

PROVIDER: S-EPMC8738758 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature