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 journalArticle

983 Scopus citations

Abstract

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
JournalScience
Volume281
Issue number5373
DOIs
StatePublished - Jul 3 1998

ASJC Scopus subject areas

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    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. (1998). Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science, 281(5373), 108-111. https://doi.org/10.1126/science.281.5373.108