The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants.

ABSTRACT: Myosin XVA (MYO15A) is a member of the myosin superfamily that, as a motor protein, plays an essential role in actin polymerization at the tip of the stereocilia in hair cells. Variants in MYO15A are known to be the third most common reason for autosomal recessive non-syndromic hearing loss (ARNSHL). Here, we present twenty-six unrelated families with MYO15A variants from an Iranian cohort. Whole exome sequencing (WES) was performed following a comprehensive medical evaluation. The identified variants were assessed based on the American College of Medical Genetics and Genomics guidelines. Twenty-seven distinct variants linked to MYO15A were identified as contributors to profound ARNSHL. These included ten novel variants and seventeen previously documented variants that co-segregated. Most

SUBMITTER: Morovvati S 

PROVIDER: S-EPMC12022297 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature