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

First Author  Schott J J Year  1998
Journal  Science Volume  281
Pages  108-11 PubMed ID  9651244
Abstract Text  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. Issue  5373
Month  Jul

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9 Authors

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22 Mesh Terms