Novel variants in <i>ZNF462</i> and phenotype update in patients with Weiss-Kruszka syndrome: a case series.

ABSTRACT:

Background

Weiss-Kruszka syndrome (WSKA) is a neurodevelopmental disorder caused by loss-of-function variants in ZNF462, a zinc-finger transcription factor critical for embryonic morphogenesis. Characterized by intellectual disability, facial dysmorphism, muscle tone abnormalities, and congenital malformations, WSKA exhibits significant phenotypic heterogeneity. Despite over 40 cases reported globally, existing studies rarely report the clinical manifestations of this disease in Chinese patients.

Case description

Six patients harboring pathogenic ZNF462 variants were included and clinically evaluated at Shanghai Children's Medical Center. Comprehensive phenotyping included detailed dysmorphology assessments, neurodevelopmental testing, and targeted organ system

SUBMITTER: Huai W 

PROVIDER: S-EPMC12433108 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature