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

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...

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Bibliographic Details
Published in:American journal of human genetics 2002-03, Vol.70 (3), p.776-780
Main Authors: Goldmuntz, Elizabeth, Bamford, Richard, Karkera, Jayaprakash D., dela Cruz, June, Roessler, Erich, Muenke, Maximilian
Format: Article
Language:English
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
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Summary: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, transposition of the great arteries and double-outlet right ventricle, in the absence of laterality defects—would also have CFC1 mutations. Our analysis of the CFC1 gene in patients with these cardiac disorders identified two disease-related mutations in 86 patients. The present study identifies the first autosomal single-gene defect for these cardiac malformations and indicates that some cases of transposition of the great arteries and double-outlet right ventricle can share a common genetic etiology with heterotaxy syndrome. In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development.
ISSN:0002-9297
1537-6605
DOI:10.1086/339079