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Background  Hereditary hearing loss is a heterogeneous class of disorders showing various patterns of inheritance and involving many genes. Mutations in the  EYA4  gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus.    Methods  We report on a Chinese family with sensorineural, progressive hearing loss. Next-generation sequencing (NGS) was conducted using DNA samples from this family. A candidate mutation was confirmed by Sanger sequencing. A detailed genotype and phenotype analysis of  EYA4  in deafness is provided.    Results  NGS revealed an insertion mutation c.544_545insA in exon 8 of  EYA4  in all affected family members. This insertion created a frameshift resulting in a stop codon at position 221 (p.F221X). The p.F221X frameshift mutation cosegregated with hearing loss in the family. Audiograms of affected family members are flat or sloping, differing from the characteristic “cookie bite” audiogram and the mutation is localized in a different region of the eyaHR in  EYA4 .    Conclusions  We identified a novel frameshift mutation in the  EYA4  gene. Our results enrich the mutational spectrum of  EYA4  and highlight the complexity of the DFNA10 genotypes and phenotypes. Using NGS techniques to establish a database of common mutations in patients with hearing loss and further data accumulation will contribute to the early diagnosis and development of fundamental therapies for hereditary hearing loss.

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness