Identification of a Novel Compound Heterozygous Mutation inin a Chinese Family with Severe Hearing Impairment

更新时间:2023-05-28

【摘要】Objectives: Hearing loss is a worldwide disease. In 50% of the patients, hearing loss is caused by genetic problems associated withGJB2,MTRNR1,SLC26A4, and other genes. Considering the recent development and cost reduction of whole-exome sequencing, it is possible to filter out the normal genes and find which among the more novel genes contributed to the loss of hearing.Methods: After prescreening all individuals forGJB2,MTRNR1 andSLC26A4 mutations, whole-exome sequencing was performed in the proband, and the pathogenic variant was confirmed via Sanger sequencing.Results: The compound-heterozygous variant namely c.8076G>C:p.E2692D and c.6362T>C:p.V2121A inOTOG was identified as a candidate gene of a consanguineous Kazakh family.Conclusion: This is the first reported case of severe deafness caused by anOTOG compound-heterozygous variant in the world and the first case of deafness caused by anOTOG variant in China. This discovery identified the important contribution ofOTOG toward deafness and expanded the spectrum of variants responsible for human hearing loss.

【关键词】 Genetics Hearing Loss OTOG Whole-exome Sequencing

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