NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

@article{McDaniell2006NOTCH2MC,
  title={NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.},
  author={Ryan McDaniell and Daniel M. Warthen and Pedro A. Sanchez-Lara and Athma A. Pai and Ian D. Krantz and David A. Piccoli and Nancy B. Spinner},
  journal={American journal of human genetics},
  year={2006},
  volume={79 1},
  pages={169-73}
}
Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 (JAG1), which are found in 94% of patients. To identify the cause of disease in patients without JAG1 mutations, we screened 11 JAG1 mutation-negative probands with AGS for alterations in the gene for the Notch2 receptor (NOTCH2). We found NOTCH2 mutations segregating in two families and identified five affected individuals. Renal manifestations, a minor feature in AGS, were present in all… CONTINUE READING
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