J Genet Med.  2012 Dec;9(2):98-100. 10.5734/JGM.2012.9.2.98.

A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

Affiliations
  • 1Department of Pediatrics, Asan Medical Center children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Center, Asan Medical Center children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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.

Keyword

Holt-Oram syndrome; TBX5; Mutation
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