Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.
Mitochondrion
; 12(2): 258-61, 2012 Mar.
Article
em En
| MEDLINE
| ID: mdl-21982779
ABSTRACT
Leigh syndrome is a severe neurodegenerative disease with heterogeneous genetic etiology. We report a novel m.4296G>A variant in the mitochondrial tRNA isoleucine gene in a child with Leigh syndrome, mitochondrial proliferation, lactic acidosis, and abnormal respiratory chain enzymology. The variant is present at >75% heteroplasmy in blood and cultured fibroblasts from the proband, <5% in asymptomatic maternal relatives, and is absent in 3000 controls. It is located in the highly conserved anticodon region of tRNA(Ile) where three other pathogenic changes have been described. We conclude that there is strong evidence to classify m.4296G>A as a pathogenic mutation causing Leigh syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
RNA
/
RNA de Transferência de Isoleucina
/
Doença de Leigh
/
Mutação Puntual
Limite:
Female
/
Humans
/
Infant
/
Newborn
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article