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

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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.