Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
J Pediatr
; 135(3): 311-5, 1999 Sep.
Article
em En
| MEDLINE
| ID: mdl-10484795
ABSTRACT
Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. We performed mutational analysis in 5 families with suspected Barth syndrome. In 4 families a male child had all the cardinal features of this syndrome, and mutations of G4.5 were found in each case. A mutation was also found in a fifth family with an extensive history of early infant death from heart disease. The recognition of 5 unrelated families in 1 hospital during a 7-year period suggests that this disease may be underdiagnosed.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Análise Mutacional de DNA
/
Cardiomiopatia Dilatada
/
Mutagênese Insercional
/
Mutação de Sentido Incorreto
/
Insuficiência de Crescimento
/
Glutaratos
/
Ligação Genética
/
Neutropenia
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Reino Unido