Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review

Gabriele-de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS-a 63-year-old woman with a c.1177_1179del YY1 variant, presenting with mild intellectual disability, bilateral cataracts, and early-onset coronary artery disease. We further review the shared and unique features across all adult patients with GADEVS in the literature. Together, this case report and review aim to broaden the phenotypic spectrum of patients with GADEVS.