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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

Authors: McDaniell, R  Warthen, DM  Sanchez-Lara, PA  Pai, A  Krantz, ID  Piccoli, DA  Spinner, NB 
Citation: McDaniell R, etal., Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10.
Pubmed: (View Article at PubMed) PMID:16773578
DOI: Full-text: DOI:10.1086/505332

Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 (JAG1), which are found in 94% of patients. To identify the cause of disease in patients without JAG1 mutations, we screened 11 JAG1 mutation-negative probands with AGS for alterations in the gene for the Notch2 receptor (NOTCH2). We found NOTCH2 mutations segregating in two families and identified five affected individuals. Renal manifestations, a minor feature in AGS, were present in all the affected individuals. This demonstrates that AGS is a heterogeneous disorder and implicates NOTCH2 mutations in human disease.

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CRRD Object Information
CRRD ID: 1580762
Created: 2006-08-22
Species: All species
Last Modified: 2006-08-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.