British Journal of Oral and Maxillofacial Surgery
Volume 47, Issue 5 , Pages 366-369 , July 2009

New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome

  • Wei Wang

      Affiliations

    • Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, China
    • ,
  • Jinhui Wang

      Affiliations

    • Department of Clinical Laboratory, the Second Affiliated Hospital of Harbin Medical University, Harbin 150086, China
    • ,
  • Jichen Li

      Affiliations

    • Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, China
    • ,
  • Limin Mao

      Affiliations

    • Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, China
    • ,
  • Fulin Guo

      Affiliations

    • Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, China
    • ,
  • Bin Zhang

      Affiliations

    • Department of Oral and Maxillofacial Surgery, the Second Affiliated Hospital of Harbin Medical University, Harbin 150086, China
    • Corresponding Author InformationCorresponding author. Fax: +86 451 86605344.

,Accepted 2 October 2008.

References 

  1. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine. 1987;66:98–113
  2. Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet. 1992;339:581–582
  3. Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996;85:841–851
  4. Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996;272:1668–1671
  5. Stone DM, Hynes M, Armanini M, et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature. 1996;384:129–134
  6. Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin CJ. Biochemical evidence that patched is the Hedgehog receptor. Nature. 1996;384:176–179
  7. Wicking C, Shanley S, Smyth I, et al. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet. 1997;60:21–26
  8. Johnson RL, Rothman AL, Xie J, Goodrich LV, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996;272:1668–1671
  9. Chen Y, Struhl G. Dual roles for patched in sequestering and transducing Hedgehog. Cell. 1996;87:553–563
  10. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004;6:530–539
  11. High A, Zedan W. Basal cell nevus syndrome. Curr Opin Oncol. 2005;17:160–166
  12. Lindstrom E, Shimokawa T, Toftgard R, Zaphiropoulos PG. PTCH mutations: distribution and analyses. Hum Mutat. 2006;27:215–219
  13. Shanley S, Ratcliffe J, Hockey A, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. 1994;15:282–290
  14. Chenevix-Trench G, Wicking C, Berkman J, et al. Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity. Am J Hum Genet. 1993;53:760–767
  15. Chung CH, Wong TY, Shieh TY, Shieh DB, Chao SC. Nevoid basal cell carcinoma syndrome – clinical manifestations and mutation analysis of a Taiwanese family. J Formos Med Assoc. 2003;102:793–797
  16. Lam CW, Leung CY, Lee KC, et al. Novel mutations in the PATCHED gene in basal cell nevus syndrome. Mol Genet Metab. 2002;76:57–61
  17. Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z. Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. Tumour Biol. 2006;27:175–180

PII: S0266-4356(08)00520-2

doi: 10.1016/j.bjoms.2008.10.001

British Journal of Oral and Maxillofacial Surgery
Volume 47, Issue 5 , Pages 366-369 , July 2009

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