Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Authors

  • Ningning Dang,

    1. Department of Dermatology, St George Hospital, Sydney, Australia;
    2. Department of Dermatology, Jinan Central Hospital, Shandong Province, China;
    3. University of New South Wales, Sydney, NSW, Australia
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  • Dédée F. Murrell

    1. Department of Dermatology, St George Hospital, Sydney, Australia;
    2. University of New South Wales, Sydney, NSW, Australia
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Dedee F Murrell, MA (Cambridge), BMBCh (Oxford), FAAD (USA), MD (UNSW), Chair, Department of Dermatology, St George Hospital, University of NSW, Gray Street, Kogarah, Sydney, NSW 2217, Australia, Tel.: +61 2 9113 2543, Fax: +61 2 9113 2906, e-mail: d.murrell@unsw.edu.au

Abstract

Abstract:  Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 in different variants of DEB; many mutations are clustered in exon 73 (10.74%) which is close to the 39 amino acid interruption region. Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the triple helix of COL7A1 although other missense mutations, deletions or splice-site mutations may underlie some cases. In recessive dystrophic epidermolysis bullosa, the mutations include nonsense, splice site, deletions or insertions, ‘silent’ glycine substitutions within the triple helix and non-glycine missense mutations within the triple helix or non-collagenous NC-2 domain. The nature of mutations in COL7A1 and their positions correlate reasonably logically with the severity of the resulting phenotypes.

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