Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects

► We genetically analyzed an enhancer of NKX2-5 gene in a large cohort of VSD patients. ► Three novel variants were identified in VSD patients and controls with similar frequencies. ► The variants within the NKX2-5 gene enhancer did not a contribute to the VSD etiology. ► The other regulatory elements of NKX2-5 gene will be examined in CHD patients.