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A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss
Author(s) -
Nishio Ayako,
Noguchi Yoshihiro,
Sato Tatsuya,
Naruse Taeko K.,
Kimura Akinori,
Takagi Akira,
Kitamura Ken
Publication year - 2014
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12053
Subject(s) - genetics , mutation , exon , haplotype , biology , hearing loss , gene , medicine , genotype , audiology
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.