September 2017 Vol. 5 No.9

Search Pubmed for articles by:
 

Original Research Article

Tbx5 variants associated with non-Holt Oram syndrome (HOS) cardiac septal defect patients

M. A. Al-Azzouny¹, E. G. Behiry¹, M. O. El Ruby², E. M. El Haddad¹ and A. G. Fayez^3*

¹Faculty of Medicine, Banha University, Banha, Egypt
²Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Dokki, Egypt
³Molecular Genetics and Enzymology Department, Human Genetics & Genome Research Division, National Research Centre, Dokki, Egypt

*Corresponding Author’s E-mail: afayez_nrc@yahoo.com

Accepted August 16, 2017

Abstract

Congenital cardiac septal defect (CSD) is the most common of congenital heart anomalies. The T-box transcription factor TBX5 gene is important in mammalian cardiac development either cardiac septation or morphogenesis. We aimed in this study to characterize the TBX5 variants in non-HOS patient with CSD. This case-controlled study was conducted on 30 unrelated affected children with non-syndromic isolated and non-isolated cardiac septal defects and 28 apparently healthy children with matching age and sex and without a family history of cardiac diseases as a normal control group. We detected reported intronic variant (g.18738) in 12 cases and coding variant (p.L135R) in one case. These results provide further insight into the pivotal molecular role of Tbx5 variants in cardiac development and pathogencity. This in turn could contribute to the therapeutic strategies for CSD.

Keywords: Tbx5 gene, non-Hlot oram syndrome cases, Genetic variants.