title: Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.
abstract: OBJECTIVE
  To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.
  
  
  METHODS
  Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs.
  
  
  RESULTS
  Four novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T).
  
  
  CONCLUSIONS
  Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.
authors.affiliation: Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Pan
authors.forename: Li-li
authors.initials: LL
authors.lastname: Xu
authors.forename: Li-sha
authors.initials: LS
authors.lastname: Sun
authors.forename: Tie-jun
authors.initials: TJ
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D018389:Codon, Nonsense / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D017124:Conserved Sequence / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D020440:Gene Duplication; D018095:Germ-Line Mutation / Q000235:genetics; D006147:Guanine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009808:Odontogenic Tumors / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics; D013577:Syndrome; D013912:Threonine / Q000235:genetics; D013941:Thymine
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D013912:Threonine; D006147:Guanine; D003596:Cytosine; D013941:Thymine