Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing.

ABSTRACT: Previous studies have identified ~50 genes that contribute to non-syndromic autosomal dominant sensorineural deafness (DFNA). However, in numerous families with hearing loss, the specific gene mutation remains to be identified. In the present study, the clinical characteristics and gene mutations were analyzed in a Chinese pedigree with hereditary hearing loss. The clinical characteristics of the family members were assessed and a detailed audiology function examination was performed. Whole-exome sequencing (WES) was performed to identify the gene mutation responsible for the hearing loss. Sanger sequencing was used to verify the candidate mutation detected in the family. The family consisted of 31 members, seven of whom were diagnosed with sensorineural deafness of varying degrees. No mut

SUBMITTER: Wang M 

PROVIDER: S-EPMC7388290 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature