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PTCH Mutations in Sporadic and Gorlin-syndrome-related Odontogenic Keratocysts

¹ Department of Oral Pathology, Hospital and School of Stomatology, Peking University, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, PR China; and
² Center for Human Disease Genomics, Peking University Health Science Center

^* corresponding authors, litiejun22{at}vip.sina.com or hongshan{at}bjmu.edu.cn

Odontogenic keratocysts are relatively common lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (or Gorlin syndrome). The PTCH gene has been reported to be associated with Gorlin syndrome. We investigated 10 cases of non-syndromic keratocysts and two other cases associated with Gorlin syndrome, looking for PTCH mutations. Four novel and 1 known PTCH mutations were identified in five individual patients. Of the 5 mutations identified, 2 were germ-line mutations (2619C>A; 1338_1339insGCG) in 2 cysts associated with Gorlin syndrome, and 3 were somatic mutations (3124_3129dupGTGTGC; 1361_1364delGTCT; 3913G>T) in 3 non-syndromic cysts. This report describes PTCH mutations in both non-syndromic and Gorlin-syndrome-related odontogenic keratocysts in Chinese patients, and suggests that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts.

KEY WORDS: PTCH • mutation • odontogenic keratocyst • Gorlin syndrome

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