Journal of Genetic Medicine

  • 제9권2호
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  • Pages.98-100
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  • 2012
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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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)
  • 투고 : 2012.11.17
  • 심사 : 2012.12.18
  • 발행 : 2012.12.31
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초록

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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참고문헌

  1. Holt M, Oram S. Familial heart disease with skeletal malformations. Br Heart J 1960;22:236-42. https://doi.org/10.1136/hrt.22.2.236
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