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

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

Research output: Contribution to journalArticle

970 Citations (Scopus)

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

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Heart Diseases
Transcription Factors
Haploinsufficiency
Atrioventricular Node
Mutation
DNA
Morphogenesis
Drosophila
Chromosomes
Maintenance
Genes

ASJC Scopus subject areas

  • General

Cite this

Schott, J. J., Benson, D. W., Basson, C. T., Pease, W., Silberbach, G. M., Moak, J. P., ... 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

Congenital heart disease caused by mutations in the transcription factor NKX2-5. / Schott, Jean Jacques; Benson, D. Woodrow; Basson, Craig T.; Pease, William; Silberbach, Gary (Michael); Moak, Jeffrey P.; Maron, Barry J.; Seidman, Christine E.; Seidman, J. G.

In: Science, Vol. 281, No. 5373, 03.07.1998, p. 108-111.

Research output: Contribution to journalArticle

Schott, JJ, Benson, DW, Basson, CT, Pease, W, Silberbach, GM, Moak, JP, Maron, BJ, Seidman, CE & Seidman, JG 1998, 'Congenital heart disease caused by mutations in the transcription factor NKX2-5', Science, vol. 281, no. 5373, pp. 108-111. https://doi.org/10.1126/science.281.5373.108
Schott, Jean Jacques ; Benson, D. Woodrow ; Basson, Craig T. ; Pease, William ; Silberbach, Gary (Michael) ; Moak, Jeffrey P. ; Maron, Barry J. ; Seidman, Christine E. ; Seidman, J. G. / Congenital heart disease caused by mutations in the transcription factor NKX2-5. In: Science. 1998 ; Vol. 281, No. 5373. pp. 108-111.
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