Family Genomics of Congenital Heart Defects
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ABSTRACT: 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.
SECONDARY ACCESSION(S): PRJNA252542PRJNA252541
REPOSITORIES: dbGaP
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| phs000497 | dbGaP