Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing
- Min Wang
- Qian Li
- Anchun Deng
- Xianbai Zhu
- Junjie Yang
Affiliations: Department of Otorhinolaryngology and Head and Neck Surgery, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing 400037, P.R. China
- Published online on: June 12, 2020 https://doi.org/10.3892/etm.2020.8890
Copyright: © Wang
et al. This is an open access article distributed under the
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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 mutation was identified by the general deafness gene chip. However, a novel heterozygous mutation in exon 3 (c.152C>T; Pro51Leu) of the gene crystallin µ (CRYM) was identified by WES. This result was further verified by Sanger sequencing. Co‑segregation of genotypes and phenotypes suggested that this novel mutation was instrumental for the hearing loss/DFNA. In conclusion, the present study identified a novel pathogenic mutation, NM_001888.5(CRYM): c.152C>T(Pro51Leu), associated with DFNA. This mutation has not been reported previously and further functional studies are warranted.