中文摘要：

试图与 NBCCSrelated 和 non-sydromic keratocystic odontogenic 肿瘤在病人澄清 PTCH 的角色。方法论变化分析被承担在 8 分散并且 4 联系 NBCCS 的 KCOT。结果四篇小说和二个已知的变化被识别在 2 分散并且 3 个 syndromic 盒子，哪个中的二个是 germline 变化(c.2179delT， c.2824delC ) 并且 4 个体的变化(c.3162dupG， c。1362-1374dup， c。1012 C > T， c.403C > T ).Conclusion 我们的调查结果建议 PTCH 的缺点象 non-syndromic KCOT 的一个子集一样与 syndromic 的致病被联系。

英文摘要：

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 identifled 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.