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

Jean Jacques Schott, D. Woodrow Benson, Craig T. Basson, William Pease, G. Michael Silberbach, Jeffrey P. Moak, Barry J. Maron, Christine E. Seidman, J. G. Seidman

Research output: Contribution to journalArticlepeer-review

1129 Scopus citations


Mutations in the gene encoding the homebox 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.

Original languageEnglish (US)
Pages (from-to)108-111
Number of pages4
Issue number5373
StatePublished - Jul 3 1998

ASJC Scopus subject areas

  • General


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