title: Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
abstract: Study of monogenic congenital heart disease (CHD) has provided entry points to gain new understanding of heart development and the molecular pathogenesis of CHD. In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4. Detailed investigation of these genes in mice and humans has expanded our understanding of heart development, shedding light on the complex genetic and environmental factors that influence expression and penetrance of CHD gene mutations.
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts 02115.
authors.forename: Terence
authors.initials: T
authors.lastname: Prendiville
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110.
authors.forename: Patrick Y
authors.initials: PY
authors.lastname: Jay
authors.affiliation: Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts 02115 Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts 02138.
authors.forename: William T
authors.initials: WT
authors.lastname: Pu
mesh_terms: D000818:Animals; D050991:GATA4 Transcription Factor / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006331:Heart Diseases / Q000151:congenital* / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051379:Mice; D009154:Mutation; D010641:Phenotype; D020825:T-Box Domain Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human; C484171:Gata4 protein, mouse; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; C484469:Nkx2-5 protein, mouse; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; C108625:TBX1 protein, human; C491573:Tbx1 protein, mouse; D014157:Transcription Factors