Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
J Med Genet
; 42(5): e28, 2005 May.
Article
em En
| MEDLINE
| ID: mdl-15863660
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Leigh
/
Complexo IV da Cadeia de Transporte de Elétrons
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Deficiência de Citocromo-c Oxidase
/
Mutação
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article