Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

@article{Eldadah2001FamilialTO,
  title={Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.},
  author={Zayd A. Eldadah and Ada Hamosh and Nancy Jensen Biery and Robert R. Montgomery and Markeesa Duke and Randy Elkins and Harry C Dietz},
  journal={Human molecular genetics},
  year={2001},
  volume={10 2},
  pages={163-9}
}
Tetralogy of Fallot (ToF) is the most common form of complex congenital heart disease, occurring in approximately 1 in 3000 live births. Evaluation of candidate loci in a large kindred segregating autosomal dominant ToF with reduced penetrance culminated in identification of a missense mutation (G274D) in JAG1, the gene encoding jagged1, a Notch ligand expressed in the developing right heart. Nine of eleven mutation carriers manifested cardiac disease, including classic ToF, ventricular septal… CONTINUE READING