Detection of New Locus Associated with Nonsyndromic Hearing Loss by Linkage Analysis

我们发现了一个日本非snyder型听力损失家族，该家族在线粒体tRNA^<Ser(UCN)>基因中携带T7511C突变，据我们所知，这是第二个报道的具有该突变的家族。组织学发现，整个耳蜗有严重的螺旋神经节细胞变性。在第二项研究中，我们发现了一个线粒体tRNA^<Ser(UCN)>基因7472insC突变的日本家族，这是亚洲第一个报道的家族。这些报告表明，有母传性非综合征性听力损失的家庭应该调查tRNA^<Ser(UCN)>基因的突变。第三份报告显示，DFNA11的表型为语后无综合征感音神经性听力损失，并逐渐发展。在MYO7A突变引起的表型中，DFNA11表型最轻。

We identified a Japanese family with nonsnydromic hearing loss harboring the T7511C mutation in the mitochondrial tRNA^<Ser(UCN)> gene, which is, to our knowledge, the second reported family with this mutation. In histological findings, there was severe degeneration of spiral ganglion cells throughout the cochlea.In the second study, we identified a Japanese family with the 7472insC mutation in the mitochondrial tRNA^<Ser(UCN)> gene, which is the first reported family in Asia. These reports showed that families with maternally transmitted nonsydromic hearing loss should be investigated for mutations in the tRNA^<Ser(UCN)> gene.The third report showed that the phenotype of DFNA11 is postlingual, nosyndromic sensorineural hearing loss with gradual progression. The DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.