European journal of medical genetics · 2021
A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
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Galvão de Oliveira Manuella, Tengan Célia, Micheletti Cecília, Ramos de Macedo Paloma, Soares Pinho Cernach Mirlene Cecília, Cavole Thiago Rodrigues, de França Basto Marina, Filho Joselito Sobreira, Virmond Luiza Amaral, Milanezi Fernanda, Nakano Viviane, Falconi Ariane, Perrone Eduardo
Аннотация
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.