title: Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
abstract: Alagille syndrome (ALGS) is a complex, multisystem disease associated with mutations in the JAG1 gene. In the liver, ALGS is characterized by paucity of intrahepatic bile ducts. Gene dosage analysis performed on a large, central regenerative nodule with preserved interlobular bile ducts of 2 unrelated ALGS patients, and on surrounding cirrhotic and ductopenic liver parenchyma, showed in both cases complete JAG1 heterozygous deletion in the regenerative nodule and the ductopenic liver, with no differences in gene dosage. Thus, JAG1 mosaicism and differential haploinsufficiency do not explain the presence of bile ducts in centrally located regenerative nodules.
authors: *Department of Pathology, Sainte-Justine Hospital, Montreal, Canada †Division of Clinical Pathology, Geneva University Hospitals, Geneva, Switzerland ‡Division of Gastroenterology, Hepatology and Nutrition, Sainte-Justine Hospital, Montreal, Canada §Pediatric Gastroenterology Unit, Geneva University Hospitals, Geneva, Switzerland ||Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, Faculté de Médecine de Bicêtre, Université Paris-Sud, Paris, France ¶Division of Pediatric Surgery, Geneva University Hospitals, Geneva, Switzerland.
authors: Anne-Laure
authors: AL
authors: Rougemont
authors: Fernando
authors: F
authors: Alvarez
authors: Valérie A
authors: VA
authors: McLin
authors: Anne
authors: A
authors: Guiochon-Mantel
authors: Jérome
authors: J
authors: Bouligand
authors: Sophie
authors: S
authors: Clément
authors: Aude
authors: A
authors: Tonson La Tour
authors: Barbara E
authors: BE
authors: Wildhaber
authors: Laura
authors: L
authors: Rubbia-Brandt
authors: Hervé
authors: H
authors: Sartelet
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics / Q000473:pathology*; D001653:Bile Ducts, Intrahepatic / Q000473:pathology*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008099:Liver / Q000473:pathology*; D008113:Liver Neoplasms / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; 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; D000072099:Serrate-Jagged Proteins