Arnold, Andreas W. and Burger, Bettina and Kump, Erwin and Rufle, Alexander and Tyring, Stephen K. and Kempf, Werner and Häusermann, Peter and Itin, Peter H.. (2011) Homozygosity for the c.917A--<T (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz. Dermatology, 222 (1). pp. 81-86.
![]()
|
PDF
- Published Version
309Kb |
Official URL: http://edoc.unibas.ch/dok/A6338438
Downloads: Statistics Overview
Abstract
BACKGROUND: Epidermodysplasia verruciformis Lewandowsky-Lutz (EV) is a rare genodermatosis, characterised by development of numerous verrucous skin lesions caused by specific genotypes of human papillomaviruses belonging to the beta-papillomavirus genus. The EV loci were mapped to chromosome 2p21-p24 (EV2) and 17q25 (EV1). On chromosome 17, 2 adjacent related genes--EVER1/TMC6 and EVER2/TMC8--were identified. We reinvestigated 2 patients originally described by Wilhelm Lutz in 1946 with the aim to document the natural course of the disease and confirm his diagnosis. METHODS: PCR fragments specific for exons with short flanking intron sequences of EVER1/TMC6 and EVER2/TMC8 genes from patients' DNA were amplified using sequence information. The single-nucleotide polymorphism (SNP) rs7208422 was studied, using restriction fragment length polymorphism analysis. RESULTS: In the index patient, we identified a homozygous TT genotype in exon 8 of the EVER2/TMC8 gene (c.917A--<T, p.N306I). The same mutation could thereafter be detected in her sister from paraffin-embedded skin. CONCLUSION: We have followed one of the first patients described with EV in Basel, Switzerland, in 1930 until today and demonstrated the TT genotype (SNP rs7208422) in the EVER2/TMC8 gene in this index patient and her sister. The results underline the possible relevance of SNP rs7208422 by influencing the susceptibility to beta-papillomaviruses and their oncogenic potential.
Faculties and Departments: | 03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Dermatology (Itin) |
---|---|
UniBasel Contributors: | Itin, Peter |
Item Type: | Article, refereed |
Article Subtype: | Research Article |
Publisher: | Karger |
ISSN: | 1018-8665 |
e-ISSN: | 1421-9832 |
Note: | Publication type according to Uni Basel Research Database: Journal article |
Language: | English |
Related URLs: | |
Identification Number: |
|
edoc DOI: | |
Last Modified: | 24 Oct 2017 09:03 |
Deposited On: | 10 Apr 2015 09:13 |
Repository Staff Only: item control page