Alagille Syndrome: Genetics and Functional Models

Alagille Syndrome: Genetics and Functional Models Curr Pathobiol Rep (2017) 5:233–241 DOI 10.1007/s40139-017-0144-8 PATHOBIOLOGY OF ORPHAN DISEASES (S RANGANATHAN, SECTION EDITOR) 1 1,2 Melissa A. Gilbert & Nancy B. Spinner Published online: 1 June 2017 Springer Science+Business Media New York 2017 Abstract Introduction Purpose of Review We review the genetics of the autosomal dominant, multi-system disorder Alagille syndrome, and pro- Alagille syndrome (ALGS) is an autosomal dominant disease vide a summary on how current functional models and emerg- with an estimated incidence of 1:30,000 to 1:50,000 live births ing biotechnologies are equipped to guide scientists towards and is characterized by 5 main clinical features including cho- novel therapies. The importance of haploinsufficiency as a lestasis with bile duct paucity, cardiac defects, posterior disease mechanism will be underscored throughout this embryotoxon, characteristic facies, and butterfly vertebrae discussion. [1, 2]. Affected individuals present with at least three of these Recent Findings Alagille syndrome, a human disorder affect- five features, although additional clinical manifestations, such ing the liver, heart, vasculature, kidney, and other systems, is as renal, bone, or vascular anomalies, have also been noted [3, caused by mutations in the Notch signaling pathway ligand, 4]. Given this wide range of phenotypes, patients undergo Jagged1 (JAG1) or the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Pathobiology Reports Springer Journals

Alagille Syndrome: Genetics and Functional Models

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Publisher
Springer US
Copyright
Copyright © 2017 by Springer Science+Business Media New York
Subject
Medicine & Public Health; Pathology
eISSN
2167-485X
D.O.I.
10.1007/s40139-017-0144-8
Publisher site
See Article on Publisher Site

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