Aim To clarify the role of PTCH in patients with NBCCSrelated 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.
来源：国际口腔科学杂志（英文版） 2009 年 1卷 1期
