Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
Nat Genet
; 15(1): 21-9, 1997 Jan.
Article
em En
| MEDLINE
| ID: mdl-8988164
ABSTRACT
Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12 two years ago. We have now identified a gene for this disorder (HOS1). The gene (TBX5) is a member of the Brachyury (T) family corresponding to the mouse Tbx5 gene. We have identified six mutations, three in HOS families and three in sporadic HOS cases. Each of the mutations introduces a premature stop codon in the TBX5 gene product. Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Braço
/
Fatores de Transcrição
/
Anormalidades Múltiplas
/
Proteínas com Domínio T
/
Cardiopatias Congênitas
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Reino Unido