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首页> 美国卫生研究院文献>Balkan Journal of Medical Genetics : BJMG >The Mitochondrial COI/tRNASER(UCN) G7444A Mutation May Be Associated with Hearing Impairment in a Han Chinese Family
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The Mitochondrial COI/tRNASER(UCN) G7444A Mutation May Be Associated with Hearing Impairment in a Han Chinese Family

机译：线粒体COI / tRNASER（UCN）G7444A突变可能与汉族家庭的听力障碍有关

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Variations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNASer(UCN) are the hot-spots for pathogenic variants associated with deafness. To understand the putative role of mitochondrial DNA (mtDNA) variants in hearing loss, we recently screened the variants in mitochondrial genomes in patients with deafness from the Hangzhou area of Zhejiang Province, People’s Republic of China (PRC). In this study, we describe a maternally-inherited Han Chinese family with high penetrance of hearing loss, notably, the penetrance of hearing loss in this family were 80.0 and 40.0%, when the aminoglycoside was included or excluded. Three matrilineal relatives in this pedigree exhibited different levels of hearing loss with different age at onset. In addition, sequence analysis of the complete mitochondrial genome showed the presence of the well-known C1494T pathogenic variant in the 12S rRNA gene and the G7444A pathogenic variant in the COI/ tRNASer(UCN). The C1494T anomaly had been reported to be a pathogenic mutation associated with aminoglycoside-induced and nonsyndromic hearing loss (AINHL), while the G7444A was considered as a secondary mutation associated with deafness. However, the lack of functional variants in GJB2 and TRMU genes suggested that nuclear modified genes may not play important roles in deafness expression. Thus, the combination of G7444A and C1494T pathogenic variants in the mitochondrial genome may account for the high penetrance of hearing loss in this Chinese family.
机译：已经发现线粒体基因组的变异与听力损失有关。其中，线粒体12S rRNA和tRNA Ser（UCN）是与耳聋相关的致病变异的热点。为了了解线粒体DNA（mtDNA）变异体在听力丧失中的假定作用，我们最近在中国浙江省杭州市（PRC）的聋哑患者中筛选了线粒体基因组的变异体。在这项研究中，我们描述了一个具有母性的汉族家庭，他们的听力损失率很高，特别是当包括或不包括氨基糖苷时，这个家庭的听力损失率分别为80.0和40.0％。该谱系中的三个母系亲戚在不同年龄时表现出不同程度的听力损失。此外，对完整线粒体基因组的序列分析表明，在COS / tRNA Ser（UCN）中存在着众所周知的12S rRNA基因中的C1494T致病性变体和G7444A致病性变体。据报道，C1494T异常是与氨基糖苷引起的非综合征性听力损失（AINHL）相关的致病突变，而G7444A被认为是与耳聋相关的继发性突变。然而，GJB2和TRMU基因缺乏功能性变异提示核修饰基因可能在耳聋表达中不发挥重要作用。因此，线粒体基因组中G7444A和C1494T致病变体的组合可能解释了这个中国家庭听力损失的高渗透性。

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