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Molecular etiology of 695 Chinese patients with NSHL.

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posted on 2016-10-28, 17:33 authored by Zixuan Gao, Yu Lu, Jia Ke, Tao Li, Ping Hu, Yu Song, Chiyu Xu, Jie Wang, Jing Cheng, Lei Zhang, Hong Duan, Huijun Yuan, Furong Ma

The percentages of biallelic GJB2, SLC26A4 and homoplasmic MT-RNR1 pathogenic variants were 18.6%, 20.1% and 0.72%, respectively. Screening of 97 different pathogenic variants in 3 genes revealed that 129 (18.6%, 129/695) cases carried biallelic GJB2 variants and 140 patients (20.1%,140/695) carried biallelic SLC26A4 variants. Homoplasmic MT-RNR1 m.1555A > G occurred in 5 cases (0.72%,5/695), however, MT-RNR1 variants are not necessarily causative for HL.