Alagille syndrome is a multi-system (liver, heart, skeleton, eye and facial features) genetic disorder caused by mutations in either the JAG1or NOTCH2 genes, which both function in the Notch signaling pathway. It occurs in 1:30,000 to 1:50,000 live births. Gene mutations can either be inherited from a parent or arise de novo, which means that it was absent in both parents, but the mutation is present in the cells of the child.
JAG1