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Publication Information
Affiliation
Division of Gastroenterology and Nutrition, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Canada.
Authors
Bauer RC, Chao G, Gerfen J, Hardikar W, Hirschfield G, Hoang PL, Hutchinson A, Jara P, Kamath BM, Krantz ID, Lapunzina P, Leonard L, Ling S, Loomes KM, Ng VL, Piccoli DA, Spinner NB
Studies
Citation
Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB. NOTCH2 mutations in Alagille syndrome. J Med Genet 2012 Feb;49(2):138-44. Epub 2011 Dec 29.Abstract
Alagille syndrome (ALGS) is a dominant, multisystem disorder caused by mutations in the Jagged1 (JAG1) ligand in 94% of patients, and in the NOTCH2 receptor in <1%. There are only two NOTCH2 families reported to date. This study hypothesised that additional NOTCH2 mutations would be present in patients with clinical features of ALGS without a JAG1 mutation.