A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review
| Autor: | Marina de França Basto, Ariane Falconi, Viviane Nakano, Mirlene C. S. P. Cernach, Joselito Sobreira Filho, Thiago Rodrigues Cavole, Cecília Micheletti, Manuella Galvão de Oliveira, Luiza do Amaral Virmond, Fernanda Milanezi, Célia Harumi Tengan, Eduardo Perrone, Paloma Ramos de Macedo |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Genetics Heterozygote Cytochrome biology Infant Newborn Cytochrome-c Oxidase Deficiency General Medicine Cardiomyopathy Hypertrophic Mitochondrion Compound heterozygosity Phenotype Transmembrane protein Electron Transport Complex IV Mitochondrial Encephalomyopathies Mutation biology.protein Humans Cytochrome c oxidase Gene Genetics (clinical) Exome sequencing |
| Zdroj: | European Journal of Medical Genetics. 64:104195 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2021.104195 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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