Family Genomics of Congenital Heart Defects

The study identified the causal mutation in a five-generation pedigree harboring a cardiac septal defect. The inheritance pattern is consistent with an autosomal dominant mutation with high penetrance. We performed whole-genome sequencing (Complete Genomics) on 21 individuals in the pedigree, of which 11 individuals are affected. We identified a single gene, [GATA4](http://www.ncbi.nlm.nih.gov/gene/2626), as primarily responsible for this cardiac phenotype in this pedigree.