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

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

Authors: Boutet, Nathalie  Bignon, Yves-Jean  Drouin-Garraud, ValĂ©rie  Sarda, Pierre  Longy, Michel  Lacombe, Didier  Gorry, Philippe 
Citation: Boutet N, etal., J Invest Dermatol. 2003 Sep;121(3):478-81.
Pubmed: (View Article at PubMed) PMID:12925203
DOI: Full-text: DOI:10.1046/j.1523-1747.2003.12423.x

Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant disease characterized by developmental abnormalities and a predisposition to cancers. The responsible gene for this syndrome is the PTCH tumor suppressor gene encoding for the Sonic Hedgehog receptor. We screened for PTCH mutations in 65 French Gorlin syndrome families or sporadic cases for the first time. Nineteen novel mutations and five new polymorphisms were identified in this group of patients. One microdeletion without frameshift underlines the importance of one amino acid for Ptc receptor function. Although no mutation hot-spot was described, we identified a recurrent mutation.

Annotation

Disease Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 12798568
Created: 2017-03-28
Species: All species
Last Modified: 2017-03-28
Status: ACTIVE



NHLBI Logo

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