Journal of Dermatological Science
Volume 59, Issue 2 , Pages 136-140 , August 2010

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

  • Barbora Jeřábková

      Affiliations

    • Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic
    • Division of Functional Genomics and Proteomics, Dept. Exp. Biology, Faculty of Science, Masaryk University, Brno, Czech Republic
    • These authors contributed equally to this work.
  • Lenka Fajkusová

      Affiliations

    • Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic
    • Division of Functional Genomics and Proteomics, Dept. Exp. Biology, Faculty of Science, Masaryk University, Brno, Czech Republic
    • Corresponding Author InformationCorresponding author at: Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Černopolní 9, CZ-62500 Brno, Czech Republic. Tel.: +420 532234625, fax: +420 532234623.

Received 22 February 2010

References 

  1. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58(6):931–950
  2. Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet. 1993;4(1):62–66
  3. Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol. 2008;17(7):553–568
  4. Csikos M, Szocs HI, Laszik A, Mecklenbeck S, Horvath A, Karpati S, et al. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. Br J Dermatol. 2005;152(5):879–886
  5. Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am J Hum Genet. 1996;59(2):292–300
  6. Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, et al. Genotype–phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2002;119(6):1456–1462
  7. Burgeson RE. Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol. 1993;101(3):252–255
  8. Kivirikko KI. Collagens and their abnormalities in a wide spectrum of diseases. Ann Med. 1993;25(2):113–126
  9. Posteraro P, Pascucci M, Colombi M, Barlati S, Giannetti A, Paradisi M, et al. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa. Biochem Biophys Res Commun. 2005;338(3):1391–1401

PII: S0923-1811(10)00191-X

doi: 10.1016/j.jdermsci.2010.05.007

Journal of Dermatological Science
Volume 59, Issue 2 , Pages 136-140 , August 2010

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