Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.

ABSTRACT: Hearing loss is considered one of the most common sensory neurological defects, with approximately 60% of cases attributed to genetic factors. Human pathogenic variants in the TBC1D24 gene are associated with various clinical phenotypes, including dominant nonsyndromic hearing loss DFNA65, characterized by progressive hearing loss after the development of language. This study provides an in-depth analysis of the causative gene and mutations in a family with hereditary deafness. We recruited a three-generation family with autosomal dominant nonsyndromic hearing loss (ADNSHL) and conducted detailed medical histories and relevant examinations. Next-generation sequencing (NGS) was used to identify genetic variants in the proband, which were then validated using Sanger sequencing. Multiple comp

SUBMITTER: Lei P 

PROVIDER: S-EPMC10899226 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature