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Background  Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China.    Methods  A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for  GJB2 ,  GJB3 ,  GJB6 ,  SLC26A4 ,  12S rRNA ,  and tRNA   ser ( UCN )  genes in this population. All patients with  SLC26A4  mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct.    Results  Mutations in the  GJB2  gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and  SLC26A4  mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried  GJB2  or  SLC26A4  mutations. No significant differences in mutation spectrum or prevalence of  GJB2  and  SLC26A4  were found between the two areas.    Conclusion  In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The  GJB2  gene accounted for the etiology in about 18.31% of the patients with hearing loss,  SLC26A4  accounted for about 13.73%, and  mtDNA  1555A>G mutation accounted for 1.76%. Mutations in  GJB3, GJB6 , and  mtDNA tRNA   ser ( UCN )  were not common in this Chinese cohort. Conventionally, screening is performed for  GJB2 ,  SLC26A4 , and mitochondrial  12S rRNA  in the Chinese deaf population.

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China