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[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2021

Ren Shumin, Chen Chen, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis of four Chinese families affected with deafness. METHODS: All probands were subjected to next generation sequencing (NGS). Suspected variant were verified by Sanger sequencing among the family members. Prenatal diagnosis was provided for three couples through Sanger sequencing. RESULTS: All probands were found to carry pathogenic variants of the TMC1 gene, which included...

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PMID: 33423255
DOI: 10.3760/cma.j.cn511374-20200302-00118

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