Universidade Federal de São Paulo, Unifesp, Departamento de Genética, São Paulo, SP, CEP 04023-061, Brazil.
Universidade Federal de São Paulo, Unifesp, Departamento de Neurologia, São Paulo, SP, CEP 04039-000, Brazil.
Eur J Med Genet. 2021 May;64(5):104195. doi: 10.1016/j.ejmg.2021.104195. Epub 2021 Mar 18.
The cytochrome c-oxidase (COX) enzyme, also known as mitochondrial complex IV (MT-C4D), is a transmembrane protein complex found in mitochondria. COX deficiency is one of the most frequent causes of electron transport chain defects in humans. Therefore, high energy demand organs and tissues are affected in patients with mutations in the COX15 gene, with variable phenotypic expressiveness. We describe the case of a male newborn with hypertrophic cardiomyopathy and serum and cerebrospinal fluid hyperlacticaemia, whose exome sequencing revealed two variants in a compound heterozygous state: c.232G > A; p.(Gly78Arg), classified as likely pathogenic, and c.452C > G; p.(Ser151Ter), as pathogenic; the former never previously described in the literature.
细胞色素 c-氧化酶（COX）酶，也称为线粒体复合物 IV（MT-C4D），是一种位于线粒体中的跨膜蛋白复合物。COX 缺乏是人类电子传递链缺陷最常见的原因之一。因此，患有 COX15 基因突变的患者，其能量需求高的器官和组织会受到影响，表现出不同的表型。我们描述了一名男性新生儿的病例，其患有肥厚型心肌病和血清及脑脊液高乳酸血症，其外显子组测序显示两种变异处于复合杂合状态：c.232G>A；p.(Gly78Arg)，归类为可能致病性，以及 c.452C>G；p.(Ser151Ter)，为致病性；前者在文献中从未有过描述。
