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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2006 Jul; Vol. 79 (1), pp. 169-73. Date of Electronic Publication: 2006 May 10. - Publication Year :
- 2006
-
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.
Details
- Language :
- English
- ISSN :
- 0002-9297
- Volume :
- 79
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 16773578
- Full Text :
- https://doi.org/10.1086/505332