Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis

SummaryBackgroundEpidermodysplasia verruciformis (EV) is a rare autosomal recessive disease. The main clinical features include three kinds of lesions, high risk of skin cancer, and abnormal susceptibility to HPV 5 and 8. Recent studies have shown that mutations in EVER1 and EVER2 genes are responsible for the condition.ObjectiveIn the present study, we investigated the molecular basis of EV in two families with EV.MethodsPCR and direct sequencing of the EVER1 and EVER2 genes were used to identify and confirm the mutations in our probands in the two families. Direct sequencing and SacI digestion were used to detect the polymorphism of exon 6.ResultsSequencing of the EVER1 and EVER2 genes revealed a novel mutation and a genetic polymorphism. The novel mutation by inserting CATGT after nucleotide 916 in exon 9 resulted in a nonsense mutation and a premature termination codon. Direct sequencing and SacI digestion revealed genotype frequencies of C457T, 457T, and 457C alleles in 16 individuals of EV families were of 9, 3, and 4, which were 26, 0, and 24 in 50 unrelated normal controls, respectively. To our knowledge, the novel mutation and genetic polymorphism have not been described in literatures.ConclusionsThe growing number of mutations in EV pedigrees supports the hypothesis that EVER1 and EVER2 are the molecular basis of EV.