Received: February 22, 2024; Published: March 06, 2024

Abstract

Introduction: White-Sutton syndrome (WHSUS) is a rare monogenic, autosomal dominant neurodevelopmental disorder. The diagnosis is established in a proband with a suggestive phenotype and a heterozygous pathogenic variant in the POGZ gene. Here we report 4 unrelated Portuguese individuals with WHSUS.

Case Report: Case 1: 7-year-old boy with intellectual disability (ID), disruptive behaviour and a pathogenic variant POGZ: c.3001C>T p. (Arg1001*). Case 2: 7-year-old boy with ID and obesity and a pathogenic variant POGZ: c.1837del p. (His613Metfs*13). Case 3: 5-year-old boy with developmental delay, behavioural problems, obesity and a likely pathogenic variant POGZ: c.3624del p. (Trp1208Cysfs*20). Case 4: 9-year-old boy with ID and ASD with a variant of unknown significance in POGZ: c.2459G>A (p.C820Y).

Discussion: WHSUS is a rare and likely underdiagnosed neurodevelopmental disorder with a non-specific phenotype. The vast majority of cases have truncating variants; the role of missense variants is still unclear (associated with disruptive behaviour but not clearly associated with ID).

Keywords: White-Sutton syndrome; Phenotype; POGZ; Intellectual Disability; Variants

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Citation

Citation: Isabel Serra Nunes., et al. “Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases".Acta Scientific Paediatrics 7.3 (2024): 05-09.

Copyright

Copyright: © 2024 Isabel Serra Nunes., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.