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


CONCLUSIONS
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.
Allegheny General Hospital, Allegheny-Singer Research Institute, 320 East North Avenue, 11th Floor, South Tower, Room 1171, Pittsburgh, PA 15212-4772, USA.
Joseph
J
Donfack
Farrel J
FJ
Buchinsky
Craig S
CS
Derkay
Bettie M
BM
Steinberg
Sukgi S
SS
Choi
Stephen F
SF
Conley
Charles M
CM
Meyer
John E
JE
McClay
Paolo
P
Campisi
Fen Z
FZ
Hu
Robert A
RA
Preston
Allan L
AL
Abramson
Garth D
GD
Ehrlich
J Christopher
JC
Post
D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000821:virology; D010212:Papilloma / Q000235:genetics* / Q000821:virology; D027383:Papillomaviridae; D030361:Papillomavirus Infections / Q000150:complications / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D012142:Respiratory Tract Neoplasms / Q000235:genetics* / Q000821:virology; D012720:Severity of Illness Index
D008565:Membrane Proteins; C470314:TMC6 protein, human