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

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.

• Authors: Joseph Donfack, Farrel J Buchinsky, Craig S Derkay, Bettie M Steinberg, Sukgi S Choi, Stephen F Conley, Charles M Meyer 3rd, John E McClay, Paolo Campisi, Fen Z Hu, Robert A Preston, Allan L Abramson, Garth D Ehrlich, J Christopher Post
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 70 Issue 7 Pg. 1235-40 (Jul 2006) ISSN: 0165-5876 [Print] Ireland
• PMID: 16487602 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• TMC6 protein, human

Topics

• Female
• Genetic Predisposition to Disease
• Genotype
• Humans
• Male
• Membrane Proteins (genetics)
• Neoplasm Recurrence, Local (genetics, virology)
• Papilloma (genetics, virology)
• Papillomaviridae
• Papillomavirus Infections (complications, genetics)
• Phenotype
• Point Mutation
• Respiratory Tract Neoplasms (genetics, virology)
• Severity of Illness Index