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Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis

Nature Genetics volume 1, pages 214–217 (1992)Cite this article

Abstract

Ehlers–Danlos (ED) syndrome type VII is characterized by the accumulation of collagen precursors in connective tissues. ED VII A and B are caused by mutations in the genes of α1 and α2 collagen I which result in the disruption of the cleavage site of procollagen I N–proteinase. The existence of ED VII C in humans has been hypothesized on the basis of a disorder in cattle and sheep related to the absence of the enzyme. We now present evidence for the existence of this disease in humans, characterized by skin fragility, altered polymers seen as hieroglyphic pictures with electron microscopy, accumulation of p–N–α1 and p–N–α2 collagen type I in the dermis and absence of processing of the p–N–I polypeptides in fibroblast cultures.

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Authors and Affiliations

  1. Laboratory of Experimental Dermatology, Tour de Patholgie, B23/3 B-4000 Sart–Tilman, Liègel, Belgium

    B. V. Nusgens & Ch. M. Lapière

  2. Center of Medical Genetics, Catholic University of Louvain, Tour Vesale 5220, B-1200, Brussels, Belgium

    Ch. Verellen-Dumoulin

  3. Dermatopathology, Tour de Patholgie, B23/3, B-4000, Sart–Tilman, Liègel, Belgium

    T. Hermanns-Lê & G.E. Piérard

  4. Department of Medical Genetics, University of Gant, University Hospital OK5, De Pintelaan, 185, B-9000, Gent, Belgium

    A. De Paepe & L. Nuytinck

Authors
  1. B. V. Nusgens
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  2. Ch. Verellen-Dumoulin
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  3. T. Hermanns-Lê
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  4. A. De Paepe
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  5. L. Nuytinck
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  6. G.E. Piérard
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  7. Ch. M. Lapière
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Nusgens, B., Verellen-Dumoulin, C., Hermanns-Lê, T. et al. Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet 1, 214–217 (1992). https://doi.org/10.1038/ng0692-214

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