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

• Lee BH
• Kim YM
• Kim GH
• Kim YH
• Yoo HW

• KMID: 1428902
• DOI: http://doi.org/10.5734/JGM.2012.9.2.98

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

MeSH Terms

Abnormalities, Multiple
Carpal Bones
Codon, Nonsense
Fathers
Genetic Testing
Heart
Heart Defects, Congenital
Heart Septal Defects, Atrial
Heart Septal Defects, Ventricular
Humans
Lower Extremity Deformities, Congenital
Upper Extremity Deformities, Congenital
Abnormalities, Multiple
Codon, Nonsense
Heart Defects, Congenital
Heart Septal Defects, Atrial
Lower Extremity Deformities, Congenital
Upper Extremity Deformities, Congenital