<i>GJB2, SLC26A4</i>, and mitochondrial <i>DNA12S rRNA</i> hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China

Abstract

Among the 156 analyzed patients, 60 patients were demonstrated with deafness genes, accounting for 38.46% (60/156), including GJB2 (22.44%, 35/156), SLC26A4 (13.66%, 22/156), and mtDNA 12S rRNA (2.56%, 4/156). In this study, we confirmed 23 deafness-causing mutations and 27 different allelic combinations including GJB2 (eight variants, 11 allelic combinations), SLC26A4 (13 variants, 16 allelic combinations) and mtDNA 12S rRNA (two variants). The occurrence rates of these deafness-causing mutations GJB2 c.235delC and SLC26A4 c.IVS7-2A > G were significantly higher than other mutation sites (p < 0.01).