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. 2016 Oct 28;11(10):e0165650. doi: 10.1371/journal.pone.0165650

Fig 1. Molecular etiology of 695 Chinese patients with NSHL.

Fig 1

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.