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Start Over Author "Joselito Sobreira" Journal european journal of medical genetics
2 results on '"Joselito Sobreira"'

2. A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review

Author

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, and Paloma Ramos de Macedo

Subjects
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
Abstract

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.

Published
2021
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