Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors

Int J Oral Sci. 2009 Mar;1(1):34-8. doi: 10.4248/ijos.08013.

Abstract

Aim: To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.

Methodology: 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).

Conclusion: Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Basal Cell Nevus Syndrome / genetics*
  • Chromatography, High Pressure Liquid
  • Codon, Nonsense / genetics
  • Codon, Terminator / genetics
  • Conserved Sequence / genetics
  • Cytosine
  • Exons / genetics
  • Female
  • Frameshift Mutation / genetics
  • Gene Duplication
  • Germ-Line Mutation / genetics
  • Guanine
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Odontogenic Tumors / genetics*
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion / genetics
  • Syndrome
  • Threonine / genetics
  • Thymine

Substances

  • Codon, Nonsense
  • Codon, Terminator
  • PTCH1 protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface
  • Threonine
  • Guanine
  • Cytosine
  • Thymine