Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

M. Bugiani, V. Tiranti, L. Farina, G. Uziel, M. Zeviani

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Abstract

BACKGROUND: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A. RESULTS: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts. CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1.

Original languageEnglish
JournalJournal of Medical Genetics
Volume42
Issue number5
Publication statusPublished - May 2005

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Cytochrome-c Oxidase Deficiency
Leigh Disease
Oxidoreductases
Mutation
Heme
Cardiomyopathies
Fibroblasts
Phenotype
Muscles
Enzymes
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. / Bugiani, M.; Tiranti, V.; Farina, L.; Uziel, G.; Zeviani, M.

In: Journal of Medical Genetics, Vol. 42, No. 5, 05.2005.

Research output: Contribution to journalArticle

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AU - Zeviani, M.

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AB - BACKGROUND: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A. RESULTS: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts. CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1.

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