期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 79, 期 1, 页码 169-173出版社
CELL PRESS
DOI: 10.1086/505332
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资金
- NCRR NIH HHS [U54RR019455, U54 RR019455] Funding Source: Medline
- NIDDK NIH HHS [R01 DK053104, DK53104] Funding Source: Medline
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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