Homozygosity for the c.917AâT (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz.
Dermatology
; 222(1): 81-6, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21196704
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 ß-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.917AâT, 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 ß-papillomaviruses and their oncogenic potential.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Cromossomos Humanos Par 17
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Epidermodisplasia Verruciforme
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Carcinoma
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Betapapillomavirus
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article