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PMID: 20186050 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

The molecular genetics of congenital heart disease: a review of recent developments.

Current opinion in cardiology ·Vol. 25 ·No. 3 ·2010-05-00 ·Pages 192-7

Wolf M, Basson CT

Abstract

Our understanding of the interactions of genes and pathways during heart development continues to expand with our knowledge of the genetic basis of congenital heart disease. Along with the discovery of specific genes that cause lesions, recent research has focused on the interactions of some previously identified genes. This review focuses on the progress made during the last year. T-box, NK, and GATA transcription factors have known associations with a variety of syndromic and isolated congenital heart defects. Discovery of novel interactions of GATA and T-box transcription factors highlights the direction of recent research. In addition, the critical yet somewhat redundant roles of nkx2.5 and nkx2.7, along with the interaction of nkx2.7 with tbx20, have been elucidated. The contributions of still other transcription factor classes are being elucidated. Further understanding of 22q11.2 deletion and microduplication syndromes and their genetic interactions has also been studied. Recent work also highlights PTPN11 and NOTCH1 in Noonan syndrome. The recent developments in the genetics of congenital heart disease are reviewed. In many cases, it is the novel interactions of previously known genes that highlight this year's developments. These interactions will ultimately lead to better understanding of downstream transcriptional or signaling pathways.

MeSH Terms
Heart Defects, Congenital/genetics Heart Septal Defects/genetics Humans Molecular Biology Mutation Transcription Factors/genetics,metabolism
Chemicals
Transcription Factors
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Wolf Michael
Division of Pediatric Critical Care, Department of Pediatrics, Weill Cornell Medical College, New York, New York 10065, USA.
Basson Craig T
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Article Info
Journal
Current opinion in cardiology
Abbr.
Curr Opin Cardiol
ISSN
1531-7080
DOI
10.1097/HCO.0b013e328337b4ce
Published
2010-05-00
Pages
192-7
Language
English
Region
United States
NLM ID
8608087
PMCID
PMC2930935
Subset
IM
Grants
NHLBI NIH HHS · RC1 HL100579-01 · United States
NHLBI NIH HHS · R01 HL061785 · United States
NHLBI NIH HHS · RC1 HL100579 · United States
NHLBI NIH HHS · RC1-HL100579 · United States
NHLBI NIH HHS · R01 HL061785-11 · United States
NHLBI NIH HHS · R01-HL80663 · United States
NHLBI NIH HHS · R01 HL080663 · United States
External Links
PubMed source DOI: 10.1097/HCO.0b013e328337b4ce PMC Full Text View journal details
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