Article
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.
Molecular genetics & genomic medicine - 1 Apr 2020
Wu Di, Huang Weiyuan, Xu Zhenhang, Li Shuo, Zhang Jie, Chen Xiaohua, Tang Yan, Qiu Jinhong, Wang Zhixia, Duan Xuchu, Zhang Luping
Abstract excerpt
BACKGROUND: Nonsyndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of 12 Chinese Han deaf families in which mutations in common deafness genes GJB2, SLC26A4, and MT-RNR1 were excluded. METHODS: Targeted next-generation sequencing of 147 known deafness genes was performed in probands of 10 families, while whole-exome sequencing was applied in...
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