A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
Journal of Genetic Medicine
;
: 98-100, 2012.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Malformations multiples
/
Os du carpe
/
Dépistage génétique
/
Codon non-sens
/
Anomalies morphologiques congénitales du membre inférieur
/
Anomalies morphologiques congénitales du membre supérieur
/
Pères
/
Coeur
/
Cardiopathies congénitales
/
Communications interauriculaires
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2012
Type:
Article
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