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Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them,  KCNQ4  is one of the most frequent disease-causing genes. More than twenty  KCNQ4  mutations have been reported, but none of them were detected in Chinese mainland families. In this study, we identified a novel  KCNQ4  mutation in a five generation Chinese family with 84 members and a known  KCNQ4  mutation in a six generation Chinese family with 66 members. Mutation screening of 30 genes for ADNSHL was performed in the probands from thirty large Chinese families with ADNSHL by targeted region capture and high-throughput sequencing. The candidate variants and the co-segregation of the phenotype were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing in all ascertained family members. Then we identified a novel  KCNQ4  mutation p.W275R in exon 5 and a known  KCNQ4  mutation p.G285S in exon 6 in two large Chinese ADNSHL families segregating with post-lingual high frequency-involved and progressive sensorineural hearing loss. This is the first report of  KCNQ4  mutation in Chinese mainland families.  KCNQ4 , a member of voltage-gated potassium channel family, is likely to be a common gene in Chinese patients with ADNSHL. The results also support that the combination of targeted enrichment and high-throughput sequencing is a valuable molecular diagnostic tool for autosomal dominant hereditary deafness.

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss