title: Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.
abstract: Germline mutations of the EVER1/TMC6 gene are associated with epidermodysplasia verruciformis (EV), which is characterized by an abnormal susceptibility to human papillomaviruses that were considered to be innocuous for the general population. In this study, we have employed polymerase chain reaction and DNA sequencing analysis to characterize the EVER1 gene in a 65-year-old Japanese EV patient. Direct sequence analyses resulted in the identification of two novel mutations. One nonsense mutation consisting of a (C>A) transversion at nucleotide 744 in exon 8 in one EVER1 allele resulted in the introduction of a premature termination codon (Y248X). Another mutation was identified in the splice acceptor site of intron 8 (892-2, IVS8-2, A>T) in another allele. This is the second report of EVER1/TMC6 mutations in EV.
authors.affiliation: Department of Surgical Pathology, Showa University Fujigaoka Hospital, 1-30 Fujigaoka, Aoba-ku, Yokohama 227-8501, Japan. six10352@super.win.ne.jp.
authors.forename: Genshu
authors.initials: G
authors.lastname: Tate
authors.affiliation: Department of Surgical Pathology, Showa University Fujigaoka Hospital, 1-30 Fujigaoka, Aoba-ku, Yokohama 227-8501, Japan.
authors.forename: Takao
authors.initials: T
authors.lastname: Suzuki
authors.affiliation: Department of Surgical Pathology, Showa University Fujigaoka Hospital, 1-30 Fujigaoka, Aoba-ku, Yokohama 227-8501, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Kishimoto
authors.affiliation: Department of Surgical Pathology, Showa University Fujigaoka Hospital, 1-30 Fujigaoka, Aoba-ku, Yokohama 227-8501, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Mitsuya
mesh_terms: D000368:Aged; D044466:Asian People; D018389:Codon, Nonsense / Q000235:genetics*; D004819:Epidermodysplasia Verruciformis / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D022821:RNA Splice Sites
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D022821:RNA Splice Sites; C470314:TMC6 protein, human