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Science. July 3, 1998; 281 (5373): 108-11.

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

Schott JJ , Benson DW , Basson CT , Pease W , Silberbach GM , Moak JP , Maron BJ , Seidman CE , Seidman JG .

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.

PubMed ID: 9651244
Article link: Science.

Genes referenced: nkx2-5

Barinaga, 1998, Pubmed

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