Family Genomics of Congenital Heart Defects

Study ID Alternative Stable ID Type
phs000758 Family

Study Description

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, as primarily responsible for this cardiac phenotype in this pedigree.

Archive Link Archive Accession
dbGaP phs000758

Who archives the data?

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