Send to:

Choose Destination
See comment in PubMed Commons below
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

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


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.

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Write to the Help Desk