Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

摘要: Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation variable region of have previously been found. In this study, we identified pathogenic located gene for first time four-generation Chinese family with 57 members. Whole-exome sequencing (WES) was performed on samples from one unaffected two affected individuals to systematically search susceptibility genes, candidate co-segregation phenotype were verified by polymerase chain reaction amplification Sanger all Then, novel exon 8, c.511G>C; p.G171R, which segregated postlingual progressive autosomal sensorineural (SNHL). This report describe domain gene, not conserved many species, indicating that potential unconserved role 171G>R human function extremely important.