<p>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, <a href="http://www.ncbi.nlm.nih.gov/gene/2626">GATA4</a>, as primarily responsible for this cardiac phenotype in this pedigree.</p>

Family Genomics of Congenital Heart Defects

Heart Septal Defects study with SNP Genotypes (NGS) data on BDC (28 participants)

Family Genomics of Congenital Heart Defects

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