Genomic investigations on an infant who presented with a putative mitochondrial disorder led to identification of compound heterozygous deletion with an overlapping region of ∼142 kb encompassing two nuclear encoded genes namely and . Investigations on fetal-derived fibroblast culture demonstrated impaired bioenergetics and mitochondrial dysfunction, which explains the phenotype and observed infant mortality in the present study. The genetic findings from this study extended the utility of whole-genome sequencing as it led to development of a MLPA-based assay for carrier screening in the extended family and the prenatal testing aiding in the birth of two healthy children.

中文翻译：

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全基因组测序，然后对非近亲印度家庭中包含 ERCC8 和 NDUFAF2 基因的基因组缺失进行功能分析，揭示了导致婴儿死亡的线粒体生物能功能失调

对一名患有假定线粒体疾病的婴儿进行的基因组研究发现了复合杂合缺失，其重叠区域约为 142 kb，包含两个核编码基因，即 和 。对胎儿来源的成纤维细胞培养物的研究表明生物能受损和线粒体功能障碍，这解释了本研究中的表型和观察到的婴儿死亡率。这项研究的遗传学发现扩展了全基因组测序的实用性，因为它导致了基于 MLPA 的检测方法的开发，用于大家庭中的携带者筛查以及有助于两个健康孩子出生的产前检测。