Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.

Details

Serval ID
serval:BIB_9EA8B4BF396F
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
Journal
Journal of pediatric gastroenterology and nutrition
Author(s)
Rougemont A.L., Alvarez F., McLin V.A., Guiochon-Mantel A., Bouligand J., Clément S., Tonson La Tour A., Wildhaber B.E., Rubbia-Brandt L., Sartelet H.
ISSN
1536-4801 (Electronic)
ISSN-L
0277-2116
Publication state
Published
Issued date
07/2015
Peer-reviewed
Oui
Volume
61
Number
1
Pages
91-93
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
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.

Keywords
Alagille Syndrome/genetics, Alagille Syndrome/pathology, Bile Ducts, Intrahepatic/pathology, Calcium-Binding Proteins/genetics, Heterozygote, Humans, Intercellular Signaling Peptides and Proteins/genetics, Liver/pathology, Liver Neoplasms/genetics, Male, Membrane Proteins/genetics, Mosaicism, Mutation, Phenotype
Pubmed
Create date
16/12/2015 11:38
Last modification date
20/08/2019 15:04
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