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首页> 外文期刊>Genetics research international >Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss
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Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

机译：葡萄牙小儿感觉神经性听力损失的分子研究

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The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes,GJB2andGJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrpgene (namely, m.5558A>G). We also identified mono- or biallelicGJB2mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.
机译：在过去的十年中，对感觉神经性听力损失（SNHL）的分子遗传学的理解迅速发展，但是尚未对葡萄牙人群的听力障碍的分子病因进行彻底调查。为了向家庭提供适当的遗传学检测和咨询，我们分析了95名SNHL无关儿童（53个非综合征和42个综合征）的整个线粒体基因组，并在非综合征患者中搜索了两个常见基因GJB2和GJB6的变异。在4.2％的病例中检测到mtDNA突变，包括迄今为止未描述的mtDNA-tRNATrp基因变化（即m.5558A> G）。我们还确定了53个非综合征病例中的20个单等位基因或双等位基因GJB2突变，还检测到两个新突变（p.P70R和p.R127QfsX84）。我们的数据进一步证实了遗传异质性对于SNHL儿童至关重要。

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