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Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10.

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

Author information

1
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.

Abstract

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.

PMID:
16773578
PMCID:
PMC1474136
DOI:
10.1086/505332
[Indexed for MEDLINE]
Free PMC Article

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