title: Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.
abstract: 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.
authors.affiliation: Laboratoire de Génétique Oncologique, Institut Bergonié, 33076 Bordeaux, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boutet
authors.forename: Yves-Jean
authors.initials: YJ
authors.lastname: Bignon
authors.forename: Valérie
authors.initials: V
authors.lastname: Drouin-Garraud
authors.forename: Pierre
authors.initials: P
authors.lastname: Sarda
authors.forename: Michel
authors.initials: M
authors.lastname: Longy
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Philippe
authors.initials: P
authors.lastname: Gorry
mesh_terms: D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D005260:Female; D016368:Frameshift Mutation; D005602:France; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface