Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP

Joseph Donfack, Farrel J. Buchinsky, Craig S. Derkay, Bettie M. Steinberg, Sukgi S. Choi, Stephen F. Conley, Charles M. Meyer, John E. McClay, Paolo Campisi, Fen Z. Hu, Robert A. Preston, Allan L. Abramson, Garth D. Ehrlich, J. Christopher Post

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3 Scopus citations

Abstract

Objective: Epidermodysplasia verruciformis is a skin disease characterized by abnormal susceptibility to human papilloma viruses. Recently four mutations in the Epidermodysplasia verruciformis 1 gene (EVER1, also known as TMC6) have been associated with the disease. Because of the phenotypic similarity between Epidermodysplasia verruciformis and recurrent respiratory papillomatosis, we decided to investigate whether any of these mutations accounts for the susceptibility to human papilloma viruses in subjects with recurrent respiratory papillomatosis (RRP). Methods: Allele-specific PCR and restriction fragment length polymorphisms (RFLPs) were employed for genotyping a cohort of 101 patients with recurrent respiratory papillomatosis. Results: None of these four mutations were found in the studied subjects. Conclusion: The absence of these mutations in RRP patients might indicate that EVER 1 alleles are not associated with susceptibility to RRP, or that other, as yet unidentified, mutations in the Epidermodysplasia verruciformis 1 gene, might account for the susceptibility to RRP.

Original languageEnglish (US)
Pages (from-to)1235-1240
Number of pages6
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume70
Issue number7
DOIs
StatePublished - Jul 1 2006

Keywords

  • Allele-specific PCR
  • Epidermodysplasia verruciformis 1
  • Human papillomavirus
  • Mutation
  • Recurrent respiratory papillomatosis
  • Restriction fragment length polymorphism
  • TMC6

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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    Donfack, J., Buchinsky, F. J., Derkay, C. S., Steinberg, B. M., Choi, S. S., Conley, S. F., Meyer, C. M., McClay, J. E., Campisi, P., Hu, F. Z., Preston, R. A., Abramson, A. L., Ehrlich, G. D., & Post, J. C. (2006). Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP. International Journal of Pediatric Otorhinolaryngology, 70(7), 1235-1240. https://doi.org/10.1016/j.ijporl.2006.01.001