Novel and recurrent COL7A1 mutation in a Polish population

Dystrophic Epidermolysis Bullosa (DEB) is a rare bullous genodermatosis caused by mutations in COL7A1, which encodes collagen type VII, the main component of anchoring fibrilis. DEB is inherited in an autosomal recessive and dominant manner, depending on the mutation type and localization. The aim of this study was to update the spectrum and frequency of COL7A1 mutations in a cohort of 42 Polish DEB patients. Using direct sequencing strategy we identified 25 different mutations, which gave us a detection rate of about 88%. In total, thirteen novel variants were identified, including three de novo mutations (p.G2680S, p.G2043R and p.Gly2064_Arg2069del). The panel of recessively inherited DEB causing recurrent mutations comprise of five variants: c.425A>G, c.682+1G> A, p.R2069C, p.W796X and, unreported before, c.7154delC, which accounts for about 59% of all mutated alleles in this group. In the dominant type of DEB, only p.G2043R was found to be recurrent and it was identified in 50% patients. Our results give further insight into the pathogenesis and epidemiology of DEB.