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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

Mutations in the gene encoding the homeobox transcription factor NKX2-5 were found to cause nonsyndromic, human congenital heart disease. A dominant disease locus associated with cardiac malformations and atrioventricular conduction abnormalities was mapped to chromosome 5q35, where NKX2-5, a Drosophila tinman homolog, is located. Three different NKX2-5 mutations were identified. Two are predicted to impair binding of NKX2-5 to target DNA, resulting in haploinsufficiency, and a third potentially augments target-DNA binding. These data indicate that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life.[1]


  1. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Schott, J.J., Benson, D.W., Basson, C.T., Pease, W., Silberbach, G.M., Moak, J.P., Maron, B.J., Seidman, C.E., Seidman, J.G. Science (1998) [Pubmed]
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