A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
Journal of Genetic Medicine
; : 98-100, 2012.
Article
in En
| WPRIM
| ID: wpr-137162
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Abnormalities, Multiple
/
Carpal Bones
/
Genetic Testing
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Codon, Nonsense
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Lower Extremity Deformities, Congenital
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Upper Extremity Deformities, Congenital
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Fathers
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Heart
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Heart Defects, Congenital
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Heart Septal Defects, Atrial
Limits:
Humans
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2012
Type:
Article