title: [PTCH gene mutations in odontogenic keratocysts].
abstract: OBJECTIVE
  To investigate the frequency, type and distribution of PTCH mutations in odontogenic keratocysts (OKC) and to analyze the molecular pathological relationship between sporadic OKC and OKC associated with nevoid basal cell carcinoma syndrome (NBCCS).
  
  
  METHODS
  Genomic DNA was extracted from 8 cases of OKC lesions (4 sporadic OKCs and 4 NBCCS-related OKCs). PTCH gene mutations were detected by PCR-direct sequencing.
  
  
  RESULTS
  Six novel PTCH mutations were identified in 6 out of 8 cases (2 sporadic and 4 NBCCS-related OKCs). Two of these were missense mutations leading to substitution of an amino acid residue respectively. The other 4 mutations were identified as insertion or deletion ranging from one single base to 7 bases, three of which caused frame-shift leading to premature truncation of PTCH protein and one resulted in an insertion of 2 amino acid residues. All these identified mutations were novel and have not been previously described.
  
  
  CONCLUSIONS
  PTCH gene mutation is a common event in NBCCS-related OKCs and could also be detected in some sporadic OKCs. Abnormalities of PTCH gene may be involved in the pathogenesis of OKC.
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
authors.forename: Jun-wei
authors.initials: JW
authors.lastname: Yuan
authors.forename: Tie-jun
authors.initials: TJ
authors.lastname: Li
authors.forename: Hao-hao
authors.initials: HH
authors.lastname: Zhong
authors.forename: Hong-shan
authors.initials: HS
authors.lastname: Zhao
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009807:Odontogenic Cysts / Q000150:complications / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D055815:Young Adult
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface