Alagille Syndrome.

Ellen Mitchell, Melissa Gilbert, Kathleen M Loomes

Journal: Clinics in liver disease 2019;22(4):625-641

PMID: 30266153

Full Text on Elsevier Science View on PubMed

Abstract

Alagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical features. A majority of patients have pathogenic mutations in either the JAG1 gene, encoding a Notch pathway ligand, or the receptor NOTCH2. No genotype-phenotype correlations have been found in any organ system. Liver disease is a major cause of morbidity in this population, whereas cardiac and vascular involvement accounts for most of the mortality. Current therapies are supportive, but the future is promising for the development of targeted interventions to augment Notch pathway signaling in involved tissues.

Address: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address: [email protected].

DOI: 10.1016/j.cld.2018.06.001

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MeSH Terms: Alagille Syndrome, Genetic Testing, Humans, Jagged-1 Protein, Liver Transplantation, Receptor, Notch2, Signal Transduction