A novel homozygous mutation of the EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis
S Aochi, G Nakanishi, N Suzuki, N Setsu… - British Journal of …, 2007 - academic.oup.com
British Journal of Dermatology, 2007•academic.oup.com
Epidermodysplasia verruciformis (EV; OMIM 226400) is a rare, autosomal recessive genetic
disease characterized by abnormal susceptibility to disease-specific human
papillomaviruses (HPVs). Patients with EV have usually presented with skin lesions
resembling disseminated flat warts or pityriasis versicolor since childhood. Some of the
lesions may progress to skin cancers late in life. Recently, genetic susceptibility loci for EV
were mapped to chromosomes 2p21–24 and 17q25. 1 Two different genes, EVER1⁄ TMC6 …
disease characterized by abnormal susceptibility to disease-specific human
papillomaviruses (HPVs). Patients with EV have usually presented with skin lesions
resembling disseminated flat warts or pityriasis versicolor since childhood. Some of the
lesions may progress to skin cancers late in life. Recently, genetic susceptibility loci for EV
were mapped to chromosomes 2p21–24 and 17q25. 1 Two different genes, EVER1⁄ TMC6 …
Epidermodysplasia verruciformis (EV; OMIM 226400) is a rare, autosomal recessive genetic disease characterized by abnormal susceptibility to disease-specific human papillomaviruses (HPVs). Patients with EV have usually presented with skin lesions resembling disseminated flat warts or pityriasis versicolor since childhood. Some of the lesions may progress to skin cancers late in life. Recently, genetic susceptibility loci for EV were mapped to chromosomes 2p21–24 and 17q25. 1 Two different genes, EVER1⁄ TMC6 and EVER2⁄ TMC8, were identified in chromosome 17q25. 2 We report 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.
