The NKX2.5 Gene Mutations in Iranian Patients with Ventricular Septal Defects

Introduction: Ventricular septal defects (VSDs) are the most common congenital malformations seen in children, accounting for up to 40% of all cardiac malformations. Genetic defects play important roles in the pathogenesis of congenital VSD. Here we studied the coding region of the NKX2.5 gene which encodes a homeodomain transcription factor.Materials & Methods: The study included VSD patients who have been diagnosed by Echocardiography. All information and clinical data were documented. Samples were collected from patients and the NKX2.5 gene was sequenced.Results: All patients were isolated VSD. The analysis of sequencing revealed no specific variant.Conclusion & discussion: The results could not show any specific variant on NKX2.5 gene as a candidate gene for VSD. So these findings suggest that study of other effective genes in VSD could be valuable for early diagnosis and treatment

Keywords:

ventricular septal defect , NKX2.5 gene , Echocardiography