COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

ABSTRACT: This phenotype-genotype study aimed to investigate the extent of audioprofile variability related to cochlin major domains and to identify potential ethnic-specific differences associated with COCH-related hearing loss. Eight Korean families (26 cases) were diagnosed with COCH-related hearing loss by exome sequencing. Audiometric test results were combined with those from nine published East Asian families (20 cases) and compared with those from 38 European-descent families (277 cases). Audioprofiles were created by grouping audiometric test results into age ranges by age at testing and then averaging hearing loss thresholds by frequency within age ranges. The functional impact of the identified variants was assessed in vitro by examining the intracellular trafficking, secretion, and cleav

SUBMITTER: Oh KS 

PROVIDER: S-EPMC8924011 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature