Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Authors: Tartaglia, M  Niemeyer, CM  Fragale, A  Song, X  Buechner, J  Jung, A  Hahlen, K  Hasle, H  Licht, JD  Gelb, BD 
Citation: Tartaglia M, etal., Nat Genet. 2003 Jun;34(2):148-50.
Pubmed: (View Article at PubMed) PMID:12717436
DOI: Full-text: DOI:10.1038/ng1156

We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JMML) have germline mutations in PTPN11 and that somatic mutations in PTPN11 account for 34% of non-syndromic JMML. Furthermore, we found mutations in PTPN11 in a small percentage of individuals with myelodysplastic syndrome (MDS) and de novo acute myeloid leukemia (AML). Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.

Annotation

Disease Annotations
Phenotype Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 11066398
Created: 2016-04-27
Species: All species
Last Modified: 2016-04-27
Status: ACTIVE



NHLBI Logo

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