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首页> 外文期刊>Genomics >Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

机译：通过外显子组和线粒体基因组的下一代测序对线粒体疾病进行诊断

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摘要

Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2. In all cases conventional diagnostic testing failed to identify a molecular diagnosis. We suggest that additional studies should be conducted to evaluate exome sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mutations.
机译：众所周知，线粒体疾病由于极端的基因座和等位基因异质性而难以诊断，而核和线粒体的基因组都可能负有责任。使用外显子组测序，我们证明了能够快速，成本有效地评估核和线粒体基因组的能力，从而获得针对四名患有三种不同线粒体疾病的患者进行分子诊断的能力。发现一名患者因MT-ATP6突变而患有Leigh综合征，发现两名受影响的兄弟姐妹是NDUFV1基因突变的复合杂合子，导致线粒体复合体I缺乏，另一名患者被发现辅酶Q10缺乏由于COQ2中的复合杂合突变。在所有情况下，常规诊断测试都无法确定分子诊断。我们建议应进行其他研究，以评估外显子组测序作为线粒体疾病（包括由于mtDNA突变引起的疾病）的主要诊断测试。

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