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KMID : 1189120120090020098
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대한의학유전학회지
2012 Volume.9 No. 2 p.98 ~ p.100
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A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
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Lee Beom-Hee
Kim Yoo-Mi
Kim Young-Hwue
Yoo Han-Wook
Kim Gu-Hwan
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Abstract
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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.
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KEYWORD
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Holt-Oram syndrome, TBX5, Mutation
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