摘要
Alagille syndrome(ALGS;OMIM#118450)is a highlyvariable,multi-systemic,autosomal dominant disorder,caused by mutations in the Jagged Canonical Notch Ligand 1(JAG1)gene(20p12.2)or in the Neurogenic locus notch homolog protein 2(NOTCH2)gene(1p13).^(1)It primarily affects the liver,heart,eyes,face,kidney,skin,vertebrae,and skeleton.^(1,2)The JAG1 gene has 26 exons and about 90%of the ALGS cases result from pathogenic variants in the JAG1 and around 7%of cases have deletions in chromosome 20 that include this gene.
