CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle

• Published in: American journal of human genetics Vol. 70; no. 3; pp. 776 - 780
• Main Authors: Goldmuntz, Elizabeth, Bamford, Richard, Karkera, Jayaprakash D., dela Cruz, June, Roessler, Erich, Muenke, Maximilian
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.03.2002; University of Chicago Press; The American Society of Human Genetics
• Subjects: Base Sequence; Biological and medical sciences; Cardiology. Vascular system; Cohort Studies; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava; Double Outlet Right Ventricle - etiology; Double Outlet Right Ventricle - genetics; Exons - genetics; Female; Growth Substances - genetics; Heart; Humans; Intercellular Signaling Peptides and Proteins; Introns - genetics; Male; Medical sciences; Mutation - genetics; Polymorphism, Genetic - genetics; RNA Splice Sites - genetics; Transposition of Great Vessels - etiology; Transposition of Great Vessels - genetics; Human; Embryonic development; Pathogenesis; Cardiovascular disease; Congenital disease; Genetic determinism; Genetic disease; Vascular disease; Gene; Heart disease; Double outlet right ventricle; Mutation; Transposition of the great vessels

Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease—namely, transposi...