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

Détails

ID Serval
serval:BIB_9EA8B4BF396F
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
Périodique
Journal of pediatric gastroenterology and nutrition
Auteur(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
Statut éditorial
Publié
Date de publication
07/2015
Peer-reviewed
Oui
Volume
61
Numéro
1
Pages
91-93
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
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.

Mots-clé
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
Création de la notice
16/12/2015 11:38
Dernière modification de la notice
20/08/2019 15:04
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