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

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.