A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation.
- Author:
Beom Hee LEE
1
;
Yoo Mi KIM
;
Gu Hwan KIM
;
Young Hwue KIM
;
Han Wook YOO
Author Information
- Publication Type:Case Report
- Keywords: Holt-Oram syndrome; TBX5; Mutation
- MeSH: 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
- From:Journal of Genetic Medicine 2012;9(2):98-100
- CountryRepublic of Korea
- Language:English
- 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.
