title: Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome.
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.
authors.affiliation: Children's Hospital of Fudan University, Shanghai, China; Institute of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Honglian
authors.initials: H
authors.lastname: Wang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Wang
authors.forename: Qiaoli
authors.initials: Q
authors.lastname: Li
authors.forename: Shiting
authors.initials: S
authors.lastname: Chen
authors.forename: Liyan
authors.initials: L
authors.lastname: Liu
authors.forename: Zhiyun
authors.initials: Z
authors.lastname: Wei
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Yun
authors.initials: Y
authors.lastname: Liu
authors.forename: Xinzhi
authors.initials: X
authors.lastname: Zhao
authors.forename: Lin
authors.initials: L
authors.lastname: He
authors.forename: Jianshe
authors.initials: J
authors.lastname: Wang
authors.forename: Qinghe
authors.initials: Q
authors.lastname: Xing
mesh_terms: D016738:Alagille Syndrome / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D000072100:Jagged-1 Protein; D008565:Membrane Proteins / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary / Q000235:genetics; D051883:Receptor, Notch2 / Q000032:analysis / Q000235:genetics; D000072099:Serrate-Jagged Proteins
chemical_list: D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; C497764:NOTCH2 protein, human; D051883:Receptor, Notch2; D000072099:Serrate-Jagged Proteins