Article
NOTCH2 mutations in Alagille syndrome.
Journal of medical genetics - 1 Feb 2012
Kamath Binita Maya, Bauer Robert C, Loomes Kathleen M, Chao Grace, Gerfen Jennifer, Hutchinson Anne, Hardikar Winita, Hirschfield Gideon, Jara Paloma, Krantz Ian D, Lapunzina Pablo, Leonard Laura, Ling Simon, Ng Vicky Lee, Hoang Phuc Le, Piccoli David A, Spinner Nancy Bettina
Abstract excerpt
BACKGROUND: 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. METHODS: The study screened a cohort of...
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