A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss. (10th February 2014)

• Record Type: Journal Article
• Authors: Nishio, Ayako; Noguchi, Yoshihiro; Sato, Tatsuya; Naruse, Taeko K.; Kimura, Akinori; Takagi, Akira; Kitamura, Ken
• Is Part Of: Annals of human genetics. Volume 78:Number 2(2014:Mar.)
• Page Start: 83
• Page End: 91
• Publication Date: 2014-02-10
• Subjects: DFNA5 -- autosomal dominant -- hereditary -- hearing loss -- sensorineural -- nystagmus; Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12053
• Languages: English
• ISSNs: 0003-4800

Abstract

Summary: Mutations in DFNA5 lead to autosomal dominant nonsyndromic hereditary hearing loss (NSHHL). To date, four different mutations in DFNA5 have been reported to cause hearing loss. A 3 bp deletion mutation (c.991‐15_991‐13del) was identified in Chinese and Korean families with autosomal dominant NSHHL, which suggested that the 3 bp deletion mutation was derived from a single origin. In the present study, we performed genetic screening of mutations in the interval between intron 6 and exon 9 of DFNA5 in 65 Japanese patients with autosomal dominant NSHHL and identified the c.991‐15_991‐13del mutation in two patients. Furthermore, we compared the DFNA5‐linked haplotypes consisting of intragenic SNPs between the reported Chinese and Korean families and found that the Japanese patients showed a shared region spanning 41, 874 bp. This is the first report of DFNA5 mutations in Japanese patients with autosomal dominant NSHHL, supporting the suggestion that the 3 bp deletion mutation occurred in their ancestors.