title: Complex genetics and the etiology of human congenital heart disease.
abstract: Congenital heart disease (CHD) is the most common birth defect. Despite considerable advances in care, CHD remains a major contributor to newborn mortality and is associated with substantial morbidities and premature death. Genetic abnormalities appear to be the primary cause of CHD, but identifying precise defects has proven challenging, principally because CHD is a complex genetic trait. Mainly because of recent advances in genomic technology such as next-generation DNA sequencing, scientists have begun to identify the genetic variants underlying CHD. In this article, the roles of modifier genes, de novo mutations, copy number variants, common variants, and noncoding mutations in the pathogenesis of CHD are reviewed.
authors.affiliation: Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029.
authors.forename: Bruce D
authors.initials: BD
authors.lastname: Gelb
authors.affiliation: Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D056915:DNA Copy Number Variations / Q000235:genetics; D060045:Genes, Modifier / Q000235:genetics; D055106:Genome-Wide Association Study; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*