Soree Ear Clinics, Seoul, South Korea.
J Hum Genet. 2010 Jan;55(1):59-62. doi: 10.1038/jhg.2009.114. Epub 2009 Nov 13.
Mutations in the DFNA5 gene are known to cause autosomal dominant non-syndromic hearing loss (ADNSHL). To date, five DFNA5 mutations have been reported, all of which were different in the genomic level. In this study, we ascertained a Korean family with autosomal dominant, progressive and sensorineural hearing loss and performed linkage analysis that revealed linkage to the DFNA5 locus on chromosome 7. Sequence analysis of DFNA5 identified a 3-bp deletion in intron 7 (c.991-15_991-13del) as the cause of hearing loss in this family. As the same mutation had been reported in a large Chinese family segregating DFNA5 hearing loss, we compared their DFNA5 mutation-linked haplotype with that of the Korean family. We found a conserved haplotype, suggesting that the 3-bp deletion is derived from a single origin in these families. Our observation raises the possibility that this mutation may be a common cause of autosomal dominant progressive hearing loss in East Asians.
DFNA5 基因突变已知可导致常染色体显性非综合征性听力损失（ADNSHL）。迄今为止，已经报道了五种 DFNA5 突变，它们在基因组水平上均不同。在这项研究中，我们确定了一个具有常染色体显性、进行性和感觉神经性听力损失的韩国家族，并进行了连锁分析，结果显示该家族与 7 号染色体上的 DFNA5 基因座连锁。DFNA5 的序列分析确定了 7 号内含子 3 个碱基的缺失（c.991-15_991-13del）是该家族听力损失的原因。由于相同的突变曾在一个分离出 DFNA5 听力损失的大型中国家族中报道过，我们比较了这两个家族的与 DFNA5 突变连锁的单体型。我们发现了一个保守的单体型，这表明 3 个碱基的缺失可能是这些家族中共同的常染色体显性进行性听力损失的来源。我们的观察结果提出了这样一种可能性，即这种突变可能是东亚地区常染色体显性进行性听力损失的常见原因。
