Spectrum of PTCH1 mutations in French patients with Gorlin syndrome

J Invest Dermatol. 2003 Sep;121(3):478-81. 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Basal Cell Nevus Syndrome / genetics*
  • Child
  • Codon, Nonsense
  • Female
  • Frameshift Mutation
  • France
  • Gene Deletion
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation, Missense
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface
  • Skin Neoplasms / genetics*


  • Codon, Nonsense
  • Membrane Proteins
  • PTCH protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface