title: Novel and recurrent COL7A1 mutation in a Polish population.
abstract: 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.
authors.affiliation: Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wertheim-Tysarowska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Sobczyńska-Tomaszewska
authors.forename: Cezary
authors.initials: C
authors.lastname: Kowalewski
authors.forename: Anna
authors.initials: A
authors.lastname: Kutkowska-Kaźmierczak
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Woźniak
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Niepokój
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.forename: Joanna
authors.initials: J
authors.lastname: Sypniewska-Jutkiewicz
authors.forename: Anna
authors.initials: A
authors.lastname: Stępień
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011044:Poland
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII