A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.

ABSTRACT: POU4F3 gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system. Several mutations of POU4F3 have been reported to cause autosomal dominant nonsyndromic hearing loss in recent years. In this study, we describe a pathogenic nonsense mutation located in POU4F3 in a four-generation Chinese family. Target region capture sequencing was performed to search for the candidate mutations from 81 genes related to nonsyndromic hearing loss in this family. A novel nonsense mutation of POU4F3, c.337C>T (p. Gln113^⁎), was identified in a Chinese family characterized by late-onset progressive nonsyndromic hearing loss. The novel mutation cosegregated with hearing loss in this fam

SUBMITTER: Zhang C 

PROVIDER: S-EPMC5143711 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature