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

Autor(es):Mostrar menos -

de Oliveira, Manuella Galvao ^[1] ; Tengan, Celia ^[2] ; Micheletti, Cecilia ^[3] ; de Macedo, Paloma Ramos ^[2] ; Soares Pinho Cernach, Mirlene Cecilia ^[4] ; Cavole, Thiago Rodrigues ^[1] ; Basto, Marina de Franca ^[1] ; Sobreira Filho, Joselito ^[1] ; Virmond, Luiza Amaral ^[1] ; Milanezi, Fernanda ^[5] ; Nakano, Viviane ^[5] ; Falconi, Ariane ^[5] ; Perrone, Eduardo ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Dept Genet, Unifesp, BR-04023061 Sao Paulo, SP - Brazil

^[2] Univ Fed Sao Paulo, Unifesp, Dept Neurol, BR-04039000 Sao Paulo, SP - Brazil

^[3] Univ Fed Sao Paulo, Dept Pediat, Dept Neurol, BR-04023060 Sao Paulo, SP - Brazil

^[4] Univ Metropolitana Santos, Dept Genet, UNIMES, BR-11045002 Santos, SP - Brazil

^[5] Diagnost Amer DASA, GeneOne, Barueri - Brazil

• Tipo de documento: Artigo de Revisão
• Fonte: EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 64, n. 5 MAY 2021.
• Citações Web of Science: 0

Resumo

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. (AU)

• Processo FAPESP: 17/22574-0 - Avaliação da relação entre nitração de proteínas e alterações mitocondriais
• Beneficiário: Célia Harumi Tengan
• Modalidade de apoio: Auxílio à Pesquisa - Regular