Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

  title={Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.},
  author={D. Woodrow Benson and G. Michael Silberbach and Ann L Kavanaugh-McHugh and Chris Cottrill and Yan Zhang and Sterling Riggs and O Smalls and Marleen Cousins Johnson and M Stuart Watson and Jonathan G Seidman and Christine E Seidman and Julie K. Plowden and John D. Kugler},
  journal={The Journal of clinical investigation},
  volume={104 11},
Heterozygous mutations in NKX2.5, a homeobox transcription factor, were reported to cause secundum atrial septal defects and result in atrioventricular (AV) conduction block during postnatal life. To further characterize the role of NKX2.5 in cardiac morphogenesis, we sought additional mutations in groups of probands with cardiac anomalies and first-degree AV block, idiopathic AV block, or tetralogy of Fallot. We identified 7 novel mutations by sequence analysis of the NKX2.5-coding region in… CONTINUE READING


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