De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

• Published in: Nature genetics Vol. 41; no. 8; pp. 931 - 935
• Main Authors: Greenway, Steven C, Pereira, Alexandre C, Lin, Jennifer C, DePalma, Steven R, Israel, Samuel J, Mesquita, Sonia M, Ergul, Emel, Conta, Jessie H, Korn, Joshua M, McCarroll, Steven A, Gorham, Joshua M, Gabriel, Stacey, Altshuler, David M, de Lourdes Quintanilla-Dieck, Maria, Artunduaga, Maria Alexandra, Eavey, Roland D, Plenge, Robert M, Shadick, Nancy A, Weinblatt, Michael E, De Jager, Philip L, Hafler, David A, Breitbart, Roger E, Seidman, Jonathan G, Seidman, Christine E
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2009; Nature Publishing Group
• Subjects: Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Cardiology. Vascular system; Cardiovascular disease; Child, Preschool; Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 3 - genetics; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava; Data analysis; Fundamental and applied biological sciences. Psychology; Gene Dosage; Gene Expression Regulation; Gene Function; Genes; Genetic aspects; Genetic Variation; Genetics of eukaryotes. Biological and molecular evolution; Heart; Heart Ventricles - metabolism; Human Genetics; Humans; letter; Medical sciences; Mutation; Phenotype; Risk factors; Studies; Tetralogy of Fallot; Tetralogy of Fallot - genetics; Tetralogy of Fallot - pathology; United States; Variant; Gene; Sporadic; Copy number; Heart disease; Fallot tetralogy; Cardiovascular disease; Identification; Locus; Congenital disease; De novo

Christine Seidman and colleagues report that 1% of individuals with sporadic non-syndromic tetralogy of Fallot show copy number gains or losses at chromosome 1q21.1. They also report copy number changes at other loci that likely contribute to the etiology of this congenital heart malformation. Tetra...