Open Access

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

  • Authors:
    • Min Wang
    • Qian Li
    • Anchun Deng
    • Xianbai Zhu
    • Junjie Yang
  • View Affiliations

  • Published online on: June 12, 2020     https://doi.org/10.3892/etm.2020.8890
  • Pages: 1447-1454
  • Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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 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.

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August-2020
Volume 20 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

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APA
Wang, M., Li, Q., Deng, A., Zhu, X., & Yang, J. (2020). Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing. Experimental and Therapeutic Medicine, 20, 1447-1454. https://doi.org/10.3892/etm.2020.8890
MLA
Wang, M., Li, Q., Deng, A., Zhu, X., Yang, J."Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing". Experimental and Therapeutic Medicine 20.2 (2020): 1447-1454.
Chicago
Wang, M., Li, Q., Deng, A., Zhu, X., Yang, J."Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing". Experimental and Therapeutic Medicine 20, no. 2 (2020): 1447-1454. https://doi.org/10.3892/etm.2020.8890