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Updated: May 24, 2026

Determining Bile Duct Density in the Mouse Liver
Published on: April 30, 2019
Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome
Honglian Wang1, Xiaohong Wang, Qiaoli Li
1Children's Hospital of Fudan University, Shanghai, China; Institute of Biomedical Sciences, Fudan University, Shanghai, China.
Abstract:
Alagille syndrome (AGS) is an autosomal dominant disorder characterized by bile duct paucity. It can be caused by variations in the JAG1 gene encoding a protein of Notch ligand and by variations in the NOTCH2 gene encoding a Notch receptor. In this study we identified 15 different JAG1 gene variations in 17 Chinese patients, nine of which were novel alterations including c.766G > T, c.819delC, c.826delT, c.3099_3100delCA, c.1323_1326delCTGG, c.1771_1775delGTGCGinsT, c.1868delG, c. 2791_2792insA and c.866delG. These alterations were located in the extracellular domain of JAG1, in particular in the DSL and EGF-like repeat domain. All the specific variations in five inheritance cases investigated were de novo. Furthermore, no sequence variation of NOTCH2 was detected in JAG1 alteration negative patients.
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