A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
Journal of Genetic Medicine
;
: 98-100, 2012.
Artículo
en Inglés
| WPRIM
| ID: wpr-137159
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Anomalías Múltiples
/
Huesos del Carpo
/
Pruebas Genéticas
/
Codón sin Sentido
/
Deformidades Congénitas de las Extremidades Inferiores
/
Deformidades Congénitas de las Extremidades Superiores
/
Padre
/
Corazón
/
Cardiopatías Congénitas
/
Defectos del Tabique Interatrial
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2012
Tipo del documento:
Artículo
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