Reinson Karit, Õunap Katrin
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
EMBO Mol Med. 2020 Nov 6;12(11):e13187. doi: 10.15252/emmm.202013187. Epub 2020 Oct 30.
Mitochondrial complex I deficiency is associated with a wide range of clinical presentations, including Leigh syndrome. Its genetic causes are heterogeneous, with poor genotype-phenotype correlation. It is impossible to identify the genetic defect of complex I deficiency using clinical observation and metabolic/imaging studies alone. As a result, whole-exome sequencing (WES) is increasingly used in clinical work to identify an underlying genetic defect causing the disease. The article in this issue of EMBO Molecular Medicine by Alahmad et al (2020) is timely and valuable, as it expands on the genotype of mitochondrial complex I deficiency by identifying and characterising pathogenic variants of the NDUFC2 gene in children with Leigh syndrome.
线粒体复合体I缺乏症与多种临床表现相关，包括 Leigh 综合征。其遗传原因具有异质性，基因型与表型的相关性较差。仅通过临床观察和代谢/影像学研究无法确定复合体I缺乏症的遗传缺陷。因此，全外显子组测序（WES）在临床工作中越来越多地用于识别导致该疾病的潜在遗传缺陷。Alahmad等人（2020年）在本期《EMBO分子医学》上发表的文章及时且有价值，因为它通过鉴定和表征 Leigh 综合征患儿中 NDUFC2 基因的致病变异，扩展了线粒体复合体I缺乏症的基因型。
