Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Yoo-Mi (Department of Pediatrics, Asan Medical Center children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Young-Hwue (Department of Pediatrics, Asan Medical Center children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center children's Hospital, University of Ulsan College of Medicine)
  • Received : 2012.11.17
  • Accepted : 2012.12.18
  • Published : 2012.12.31
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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.

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References

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