title: Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis.
abstract: BACKGROUND
  Epidermodysplasia 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.
  
  
  OBJECTIVE
  In the present study, we investigated the molecular basis of EV in two families with EV.
  
  
  METHODS
  PCR 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.
  
  
  RESULTS
  Sequencing 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.
  
  
  CONCLUSIONS
  The growing number of mutations in EV pedigrees supports the hypothesis that EVER1 and EVER2 are the molecular basis of EV.
authors.affiliation: Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, St. Wangfujing, Beijing 100730, China.
authors.forename: Ya-Gang
authors.initials: YG
authors.lastname: Zuo
authors.forename: Donglai
authors.initials: D
authors.lastname: Ma
authors.forename: Yunpeng
authors.initials: Y
authors.lastname: Zhang
authors.forename: Ju
authors.initials: J
authors.lastname: Qiao
authors.forename: Baoxi
authors.initials: B
authors.lastname: Wang
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004819:Epidermodysplasia Verruciformis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012867:Skin / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C470314:TMC6 protein, human