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

Article Article scientifique Article Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism eng 2015 author Rougemont-Pidoux Anne-Laure 29140 author Alvarez-castillo Fernando 36696 author Mclin Valérie Anne 799651 author Guiochon-Mantel Anne author Bouligand Jérome author Clement Sophie 759123 author Tonson La Tour Aude Marjolaine 543478 author Wildhaber Barbara 595596 author Rubbia-Brandt Laura 31809 author Sartelet Hervé 91-93 10.1097/MPG.0000000000000744 25643021 0277-2116 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. Dewey 616 Dewey 618 56 Département de médecine 221 58 Département de pédiatrie, gynécologie et obstétrique 223 false 559 Pathologies hépatiques congénitales et acquises de l'enfant 900 297 Etudes et traitement de l'hépatite C et B 554 391 Métastases du foie 657 546 Recherche clinique en chirurgie pédiatrique 886 Journal of pediatric gastroenterology and nutrition 61 1 144304bc-2dcb-4ced-b077-a77c4714511e Article (Published version) Restricted 00005176-201507000-00019.pdf 4793175 application/pdf restrictedAccess Faculté de médecine / Section de médecine clinique / Département de médecine Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

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Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism	Journal of pediatric gastroenterology and nutrition			2015	576	0

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Alvarez-castillo, Fernando