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

TitleNovel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Publication TypeJournal Article
Year of Publication2005
AuthorsBugiani, M, Tiranti, V, Farina, L, Uziel, G, Zeviani, M
JournalJ Med Genet
Volume42
Issue5
Paginatione28
Date Published2005 May
ISSN1468-6244
KeywordsAdolescent, Brain, Cytochrome-c Oxidase Deficiency, DNA Mutational Analysis, Electron Transport Complex IV, Fibroblasts, Humans, Leigh Disease, Male, Mutation, Survivors
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.

DOI10.1136/jmg.2004.029926
Alternate JournalJ. Med. Genet.
Citation Key10.1136/jmg.2004.029926
PubMed ID15863660
PubMed Central IDPMC1736058
Grant ListGGP030039 / / Telethon / Italy