The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.

ABSTRACT: DFNB61 is a recessively inherited nonsyndromic hearing loss caused by mutations in SLC26A5, the gene that encodes the voltage-driven motor protein, prestin. Prestin is abundantly expressed in the auditory outer hair cells that mediate cochlear amplification. Two DFNB61-associated SLC26A5 variants, p.W70X and p.R130S, were identified in patients who are compound heterozygous for these nonsense and missense changes (SLC26A5^W70X/R130S ). Our recent study showed that mice homozygous for p.R130S (Slc26a5^R130S/R130S ) suffer from hearing loss that is ascribed to significantly reduced motor kinetics of prestin. Given that W70X-prestin is nonfunctional, compound heterozygous Slc26a5^R130S/- mice were used as a model for human SLC26A5^W70X/R130S . By examin

SUBMITTER: Takahashi S 

PROVIDER: S-EPMC10942758 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature