JAG1 and Alagille syndrome: In addition, only one NOTCH2 mutation of the splice site of exon 33 (c.5930−1G→A) was identified in the patient with Alagille syndrome, while more than 40 splicing mutations were reported in the JAG1 gene with Alagille syndrome (http://www.hgmd.cf.ac.uk/ac/gene.php?gene=JAG1) (Mcdaniell et al., 2006; Chen et al., 2018).