PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients
Article first published online: 19 JUL 2007
© 2007 The Authors
Volume 14, Issue 2, pages 174–179, March 2008
How to Cite
Li, T.-J., Yuan, J.-W., Gu, X.-M., Sun, L.-S. and Zhao, H.-S. (2008), PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. Oral Diseases, 14: 174–179. doi: 10.1111/j.1601-0825.2007.01369.x
- Issue published online: 19 JUL 2007
- Article first published online: 19 JUL 2007
- Received 19 July 2006; accepted 29 December 2006
- nevoid basal cell carcinoma syndrome;
- odontogenic keratocyst
Objectives: PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for nevoid basal cell carcinoma syndrome. The aim of this study was to investigate PTCH gene mutation in Chinese patients with nevoid basal cell carcinoma syndrome.
Materials and methods: DNA was isolated from both odontogenic keratocyst tissue and peripheral blood of five patients with syndrome and one patient with only multiple odontogenic keratocysts, and mutational analysis of the PTCH gene performed by direct sequencing after amplification of all 23 exons by polymerase chain reaction (PCR).
Results: A previously reported germline mutation (c.2619C>A) was identified in two familial cases involving the mother and the daughter, with the mother also carrying a novel somatic mutation (c.361_362insGAGC). Three novel germline PTCH mutations (c.1338_1339insGCG, c.331delG and c.1939A>T) were detected in three unrelated patients with syndrome. The patient with multiple odontogenic keratocysts who failed to fulfill the diagnostic criteria of the syndrome also carried a novel germline mutation (c.317T>G).
Conclusion: The frequent germline PTCH mutations detected in our series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.