In:
Dermatology, S. Karger AG, Vol. 222, No. 1 ( 2011), p. 81-86
Abstract:
〈 i 〉 Background: 〈 /i 〉 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 β-papillomavirus genus. The EV loci were mapped to chromosome 2p21–p24 (EV2) and 17q25 (EV1). On chromosome 17, 2 adjacent related genes – 〈 i 〉 EVER1/TMC6 〈 /i 〉 and 〈 i 〉 EVER2/TMC8 〈 /i 〉 – 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. 〈 i 〉 Methods: 〈 /i 〉 PCR fragments specific for exons with short flanking intron sequences of 〈 i 〉 EVER1/TMC6 〈 /i 〉 and 〈 i 〉 EVER2/TMC8 〈 /i 〉 genes from patients’ DNA were amplified using sequence information. The single-nucleotide polymorphism (SNP) rs7208422 was studied, using restriction fragment length polymorphism analysis. 〈 i 〉 Results: 〈 /i 〉 In the index patient, we identified a homozygous TT genotype in exon 8 of the 〈 i 〉 EVER2/TMC8 〈 /i 〉 gene (c.917A → T, p.N306I). The same mutation could thereafter be detected in her sister from paraffin-embedded skin. 〈 i 〉 Conclusion: 〈 /i 〉 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 〈 i 〉 EVER2/TMC8 〈 /i 〉 gene in this index patient and her sister. The results underline the possible relevance of SNP rs7208422 by influencing the susceptibility to β-papillomaviruses and their oncogenic potential.
Type of Medium:
Online Resource
ISSN:
1018-8665
,
1421-9832
Language:
English
Publisher:
S. Karger AG
Publication Date:
2011
detail.hit.zdb_id:
1482189-8
