Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India.

ABSTRACT:

Background

DeSanto-Shinawi Syndrome (DESSH) is a rare neurodevelopmental disorder characterized by intellectual disability, behavioral abnormalities, and distinctive dysmorphic features, linked to likely pathogenic/pathogenic variants in the WAC gene. We report the first documented case of DESSH in India, identified in a 3-year-old male presenting with global developmental delay and coarse facies.

Results

Exome sequencing revealed a novel heterozygous nonsense likely pathogenic variant (c.1661 C>A(p.Ser554*)) in the WAC gene, expanding the genotypic spectrum associated with this condition. We employed computational methodologies to understand the effects of this novel variant on protein structure and function. In-silico prediction score suggested protein truncation due to th

SUBMITTER: Dwivedi A 

PROVIDER: S-EPMC12065696 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature