A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.

We report on a familial screen of five female members in three generations affected by an autosomal-dominant inherited atrioventricular (AV) conduction block associated with atrial septal defects (ASD) and other congenital cardiovascular diseases (CCVD), such as pulmonary artery stenosis (PAS), patent foramen ovale (PFO) and ventricular septal defect (VSD). We tested the cardiac transcription factor NKX2-5 which is known to cause CCVD with variable phenotype and penetrance by direct sequencing of the two NKX2-5 coding exons in the index patient and identified a novel heterozygous c.325G> T mutation in exon 1 of the gene.