JAG1 and NOTCH2 and the Alagille Syndrome
- DOI:
- 10.1093/med/9780199934522.003.0073
Alagille Syndrome is a multisystem, autosomal dominant, developmental disorder with clinical manifestations in the hepatic, cardiac, ophthalmologic and skeletal systems, accompanied by characteristic facial features. The most common features include bile duct paucity and resultant cholestasis, peripheral pulmonic stenosis (with tetralogy of Fallot the most common intracardiac defect), posterior embryotoxon and butterfly vertebrae and expressivity of all systems is highly variable. A smaller percent of patients also have renal and vascular anomalies. The disorder is caused by mutation in 2 genes in the Notch Signaling Pathway, the cell surface ligand Jagged1 (JAG1) seen in a high percentage of patients (about 94%) and the Notch receptor NOTCH2 seen in a smaller percent (1-2%).
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