Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

@article{Ramoz2002MutationsIT,
  title={Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis},
  author={Nicolas Ramoz and L A Rueda and Bakar Bouadjar and L S Montoya and Gérard Orth and M. Favre},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={579-581}
}
Epidermodysplasia verruciformis (OMIM 226400) is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses (HPVs). We recently mapped a susceptibility locus for epidermodysplasia verruciformis (EV1) to chromosome 17q25. Here we report the identification of nonsense mutations in two adjacent novel genes, EVER1 and EVER2, that are associated with the disease. The gene… 
A novel homozygous mutation of the EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis
TLDR
A woman with HPV type 12-induced EV who carried a homozygous CfiT transition at nucleotide position 220 within exon 4 of EVER1 that led to a premature translation termination is reported.
Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T‐cell defects and virus‐induced squamous cell carcinoma
  • S-L Li, L. Duo, +15 authors C-Y Li
  • Biology, Medicine
    The British journal of dermatology
  • 2016
TLDR
More phenotypes related to but distinct from EV have been reported with an immunodeficiency state but without EVER1/EVER2 mutation, and the genetic basis for these atypical EV cases is poorly understood.
Review of paper
The EVER genes – the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients A b s t r a c t In recent years, the two
The EVER genes – the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients
TLDR
It was determined that the EVER genes belong to a novel gene family, the transmembrane channel-like (TMC) family, and are responsible for properly functioning zinc homeostasis, and given new insights into EV pathogenesis.
Treatment of a patient with epidermodysplasia verruciformis carrying a novel EVER2 mutation with imiquimod.
TLDR
A patient with EV and a novel homozygous gene mutation of EVER2 gene who was treated successfully with topical imiquimod are described.
A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis
TLDR
A homozygous C→T transition at nucleotide position 568 within exon 6 of the EVER2 gene was detected, which led to a premature translation termination and the predicted protein lacked 537 amino acids, the first mutation reported in Chinese patients with EV.
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
TLDR
The first female severe EV case in Bangladesh is reported, a 10‐year‐old girl with a nonsense somatic mutation impacting ANKRD26 gene, which is an abnormal susceptibility to the human papilloma virus.
A novel approach to the classification of epidermodysplasia verruciformis
TLDR
The term “acquired” epidermodysplasia verruciformis was coined to describe an EV‐like syndrome that can develop in patients with a compromised immune system that is uniquely characterized by an increased susceptibility to specific human papillomavirus (HPV) genotypes.
A distinct variant of Epidermodysplasia verruciformis in a Turkish family lacking EVER1 and EVER2 mutations
TLDR
Genetic analysis of the genes EVER1 and EVER2, two known genes to be associated with this disease, did not detect any loss of function mutations by sequencing the coding exons from genomic DNA with previously described primers.
Autosomal Dominant Epidermodysplasia Verruciformis Lacking a Known EVER1 or EVER2 Mutation
TLDR
This is the first report of autosomal dominant transmission of epidermodysplasia verruciformis, providing further evidence of the genetic heterogeneity of epidesis.
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