Whole-exome sequencing of a Kurdish family with non-syndromic hearing loss

This study aims to elucidate the genetic basis of non-syndromic hearing loss in a consanguineous Kurdish family from Kurdistan, Iran, using whole-exome sequencing (WES). By analyzing genomic DNA from affected and unaffected family members, we identified a pathogenic nonsense variant (c.1180C>T) in the MITF gene, associated with autosomal dominant hearing loss. Unlike previous reports linking this variant to Waardenburg syndrome type 2A with additional pigmentation abnormalities, our findings indicate its exclusive association with hearing loss in this population. The study provides insights into population-specific genetic variations and their phenotypic expressions, contributing to the understanding of genetic heterogeneity in hearing loss and supporting the development of targeted diagnostics and therapeutic strategies for affected individuals.