PubMed ID:
22209762
Public Release Type:
Journal
Publication Year: 2012
Affiliation: Division of Gastroenterology and Nutrition, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Canada.
DOI:
https://doi.org/10.1136/jmedgenet-2011-100544
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:
A Prospective Database of Infants With Cholestasis
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.