A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
Journal of Genetic Medicine
;
: 98-100, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-137162
ABSTRACT
Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, p.Glu294*, was identified. This is the first Korean case with HOS confirmed by genetic testing.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Múltiplas
/
Ossos do Carpo
/
Testes Genéticos
/
Códon sem Sentido
/
Deformidades Congênitas das Extremidades Inferiores
/
Deformidades Congênitas das Extremidades Superiores
/
Pai
/
Coração
/
Cardiopatias Congênitas
/
Comunicação Interatrial
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2012
Tipo de documento:
Artigo
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