A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss
A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss
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DOI：
10.1111/ahg.12053
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发表时间：
2014-03-01
影响因子：
1.9
通讯作者：
Kitamura, Ken
中科院分区：
文献类型：
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作者：
Nishio, Ayako;Noguchi, Yoshihiro;Kitamura, Ken
DFNA5 突变导致常染色体显性非综合征性遗传性听力损失 (NSHHL)。迄今为止，据报道 DFNA5 的四种不同突变会导致听力损失。在中国和韩国的常染色体显性NSHHL家系中发现了3 bp缺失突变（c.991-15_991-13del），这表明3 bp缺失突变源自单一起源。在本研究中，我们对 65 名日本常染色体显性 NSHHL 患者的 DFNA5 内含子 6 和外显子 9 之间的突变进行了基因筛查，并在两名患者中鉴定出 c.991-15_991-13del 突变。此外，我们比较了报道的中国和韩国家庭之间由基因内 SNP 组成的 DFNA5 连锁单倍型，发现日本患者显示出跨越 41,874 bp 的共享区域。这是日本常染色体显性 NSHHL 患者中首次报道 DFNA5 突变，支持了 3 bp 缺失突变发生在其祖先的观点。
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.