Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

@article{ReamonBuettner2004SomaticNM,
  title={Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.},
  author={Stella Marie Reamon-Buettner and J{\"u}rgen Borlak},
  journal={Journal of medical genetics},
  year={2004},
  volume={41 9},
  pages={684-90}
}
NKX2-5 is a pivotal transcription factor in heart development. Previous studies on lymphocytic DNA provided evidence of familial NKX2-5 gene mutations in cardiac malformations. Common mutations are rare in unrelated families. We analysed, by direct sequencing, the gene encoding NKX2-5 in the diseased heart tissues of 68 patients with complex congenital heart disease, focussing particularly on atrial, ventricular, and atrioventricular septal defects. We identified 35 non-synonymous NKX2-5… CONTINUE READING
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borlak@item.fraunhofer.de Revised version received 9 April 2004 Accepted for publication

  • RP Harvey, D Lai, +4 authors F Stennard
  • 2004

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