Rougemont Anne-Laure, Alvarez Fernando, McLin Valérie A, Guiochon-Mantel Anne, Bouligand Jérome, Clément Sophie, Tonson La Tour Aude, Wildhaber Barbara E, Rubbia-Brandt Laura, Sartelet Hervé
*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.
J Pediatr Gastroenterol Nutr. 2015 Jul;61(1):91-3. doi: 10.1097/MPG.0000000000000744.
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.
阿拉吉耶综合征（ALGS）是一种与JAG1基因突变相关的复杂多系统疾病。在肝脏中，ALGS的特征是肝内胆管稀少。对2例无关的ALGS患者的一个具有保存完好的小叶间胆管的大的中央再生结节以及周围的肝硬化和胆管减少的肝实质进行基因剂量分析，结果显示在这两种情况下，再生结节和胆管减少的肝脏中均存在JAG1杂合子完全缺失，基因剂量无差异。因此，JAG1镶嵌现象和差异性单倍体不足并不能解释中央再生结节中胆管的存在。
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