Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

Author:

Trimarchi Gabriele,Caraffi Stefano GiuseppeORCID,Radio Francesca ClementinaORCID,Barresi SabinaORCID,Contrò Gianluca,Pizzi Simone,Maini Ilenia,Pollazzon MarziaORCID,Fusco Carlo,Sassi Silvia,Nicoli Davide,Napoli ManuelaORCID,Pascarella Rosario,Gargano Giancarlo,Zuffardi OrsettaORCID,Tartaglia Marco,Garavelli Livia

Abstract

One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the long arm of chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although phenotypic features and natural history have not been exhaustively characterized yet. The phenotypic spectrum of the WHSUS is broad and includes moderate to severe ID, microcephaly, variable cerebral malformations, short stature, brachydactyly, visual abnormalities, sensorineural hearing loss, hypotonia, sleep difficulties, autistic features, self-injurious behaviour, feeding difficulties, gastroesophageal reflux, and other less frequent features. Here, we report the case of a girl with microcephaly, brain malformations, developmental delay (DD), peripheral polyneuropathy, and adducted thumb—a remarkable clinical feature in the first years of life—and heterozygous for a previously unreported, de novo splicing variant in POGZ. This report contributes to strengthen and expand the knowledge of the clinical spectrum of WHSUS, pointing out the importance of less frequent clinical signs as diagnostic handles in suspecting this condition.

Publisher

MDPI AG

Subject

Genetics(clinical),Genetics

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