A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
Journal of Genetic Medicine
;
: 98-100, 2012.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Abnormalities, Multiple
/
Carpal Bones
/
Genetic Testing
/
Codon, Nonsense
/
Lower Extremity Deformities, Congenital
/
Upper Extremity Deformities, Congenital
/
Fathers
/
Heart
/
Heart Defects, Congenital
/
Heart Septal Defects, Atrial
Limits:
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2012
Type:
Article
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