Identification of Known and Novel PTCH Mutations in Both Syndromic and Non‐syndromic Keratocystic Odontogenic Tumors
Shuang Pan , Li‐li Xu , Li‐sha Sun , Tie‐jun Li
International Journal of Oral Science ›› 2009, Vol. 1 ›› Issue (1) : 34 -38.
Identification of Known and Novel PTCH Mutations in Both Syndromic and Non‐syndromic Keratocystic Odontogenic Tumors
To clarify the role of PTCH in patients with NBCCS‐related and non‐sydromic keratocystic odontogenic tumors.
Mutation analysis was undertaken in 8 sporadic and 4 NBCCS‐associated KCOTs.
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).
Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non‐syndromic KCOTs.
keratocystic odontogenic tumor / mutation / nevoid basal cell carcinoma syndrome / PTCH
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