Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report.

ABSTRACT:

Background

White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; however, still few patients receive a comprehensive psychometric, behavioral and neurological examination. In this report, we describe the pediatric, dysmorphological, neurological, psychometric and behavioral phenotype in a new WHSUS patient due to a novel heterozygous POGZ mutation, highlighting the distinctive epileptic phenotype and the cognitive pattern.

Case presentation

The patient, an 8 years-old girl, presented history of hypotonia, motor and speech delay, and distinctive facia

SUBMITTER: Donnarumma B 

PROVIDER: S-EPMC8254207 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature