<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

2 selected publications including "GATA4 mutations cause human congenital heart defects and reveal an int..." (1,246 citations)

Family Genomics of Congenital Heart Defects

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data