Novel mutations in the PATCHED gene in basal cell nevus syndrome

Ching Wan Lam, Chi Yan Leung, Kam Cheong Lee, Jingwu Xie, Fai Man Lo, Tak Shing Au, Sui Fan Tong, Miu Kuen Poon, Loi Yuen Chan, Nai Ming Luk

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Basal cell nevus syndrome (BCNS) is an autosomal dominant disease characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. To investigate the molecular basis of BCNS in Chinese, we did a mutational analysis of the PTCH gene by performing denaturing high-performance liquid chromatography in three BCNS families. In this study, three novel mutations, two 1-bp frameshift insertions, i.e., 1468insA and 2392insC, and one 8-bp deletion, i.e., IVS5 + 1delGTAAGTGT, affecting a donor splice site, were identified. All the mutations cause a shift of the open reading frames and lead to premature termination of PTCH protein translation. Our results showed that mutational inactivation of the PTCH gene causes BCNS in Chinese.

Original languageEnglish (US)
Pages (from-to)57-61
Number of pages5
JournalMolecular Genetics and Metabolism
Volume76
Issue number1
DOIs
StatePublished - Oct 12 2002

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Keywords

  • Basal cell carcinoma
  • Basal cell nevus syndrome
  • Denaturing high-performance liquid chromatography
  • Mutation detection

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Lam, C. W., Leung, C. Y., Lee, K. C., Xie, J., Lo, F. M., Au, T. S., Tong, S. F., Poon, M. K., Chan, L. Y., & Luk, N. M. (2002). Novel mutations in the PATCHED gene in basal cell nevus syndrome. Molecular Genetics and Metabolism, 76(1), 57-61. https://doi.org/10.1016/S1096-7192(02)00021-5