Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 57, Issue 8, Pages 402-413Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2014.04.010
Keywords
Congenital heart defect; Cardiac development; Chromosomal and single gene disorders; Genomic disorder
Categories
Funding
- National Institutes of Health [RO1-HL091771]
- Doris Duke Charitable Foundation
- Gillson Longenbaugh Foundation
- March of Dimes
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Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction proteins- all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase susceptibility to congenital heart defects. (C) 2014 Elsevier Masson SAS. All rights reserved.
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