A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.

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.