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PTCH Gene Mutations in Odontogenic Keratocysts

Departments of Clinics, Pathology and Surgery

R.S. Gomez

Departments of Clinics, Pathology and Surgery

A.E. Bale

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA

W.L. Boson

Department of Pharmacology, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, Brazil

L. De Marco

Department of Pharmacology, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, Brazil

An odontogenic keratocyst (OKC) is a benign cystic lesion of the jaws that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). Recently, the gene for NBCCS was cloned and shown to be the human homologue of the Drosophila segment polarity gene Patched (PTCH), a tumor suppressor gene. The PTCH gene encodes a transmembrane protein that acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues, including tooth. We investigated three cases of sporadic odontogenic keratocysts and three other cases associated with NBCCS, looking for mutations of the PTCH gene. Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. This report is the first to describe a somatic mutation of PTCH in sporadic odontogenic keratocysts as well as two novel mutations in cysts associated with NBCCS, indicating a similar pathogenesis in a subset of sporadic keratocysts.

Key Words: PTCH • mutation • keratocyst.

Journal of Dental Research, Vol. 79, No. 6, 1418-1422 (2000)
DOI: 10.1177/00220345000790061101


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