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Autosomal dominant nonsyndromic hearing loss (ADNSHL) is extremely heterogeneous. So far the genetic etiological contribution of the gene  POU4F3  associated with ADNSHL has been rarely reported. In our previous study, a c.603_604delGG mutation in the hair cell specific gene  POU4F3  has been identified as the pathogenic cause in one of the seven Chinese Han ADNSHL families. In the present study, we performed targeted next-generation sequencing of 144 known deafness genes in another nine Chinese Han ADNSHL families and identified two more novel mutations in  POU4F3 , p.Leu311Pro and c.120+1G>C, as the pathogenic cause. Clinical characterization of the affected individuals in these three families showed that the three  POU4F3  mutations may lead to progressive hearing loss with variable ages of onset and degrees of severity. Our results suggested that mutations in  POU4F3  are a relatively common cause (3/16) for ADNSHL in Chinese Hans, which should be routinely screened in such cases during genetic testing.

Mutation in the Hair Cell Specific GenePOU4F3Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans