Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss |
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| Authors: | Ying Chen Zhentao Wang Zhaoyan Wang Dongye Chen Yongchuan Chai Xiuhong Pang Lianhua Sun Xiaowen Wang Tao Yang Hao Wu |
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| Institution: | 1Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China;2Ear Institute, Shanghai Jiaotong University, Shanghai, China;3Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China;Sant Joan de Déu Children''s Hospital, SPAIN |
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| Abstract: | The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. Targeted next-generation sequencing of 97 deafness genes was performed in the probands of each family. Novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, the homozygous p.V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A. Co-segregation of the mutations and the deafness were confirmed within each family by Sanger sequencing. No pathogenic mutations were identified in one multiplex family and one consanguineous family. Our study provided a useful piece of information for the genetic etiology of deafness in Uyghurs. |
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