摘要
Epidermodysplasia verruciformis (EV) is a genodermatosis with mainly autosomal recessive inheritance. Pathogenic mutations in two adjacent genes, EVER1 and EVER2, have recently been identified. In this study, we performed mutation detection for the EVER1 and EVER2 genes on samples from a Chinese patient with EV, who had consanguineous parents. A homozygous C →T transition at nucleotide position 568 within exon 6 of the EVER2 gene was detected. The mutation led to a premature translation termination (R190X) and the predicted protein lacked 537 amino acids. This novel nonsense mutation is, to our knowledge, the first mutation reported in Chinese patients with EV.
Epidermodysplasia verruciformis (EV) is a genodermatosis with mainly autosomal recessive inheritance. Pathogenic mutations in two adjacent genes, EVER1 and EVER2, have recently been identified. In this study, we performed mutation detection for the EVER1 and EVER2 genes on samples from a Chinese patient with EV, who had consanguineous parents. A homozygous C →T transition at nucleotide position 568 within exon 6 of the EVER2 gene was detected. The mutation led to a premature translation termination (R190X) and the predicted protein lacked 537 amino acids. This novel nonsense mutation is, to our knowledge, the first mutation reported in Chinese patients with EV.
