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

Nat Genet. 1992 Jun;1(3):214-7. doi: 10.1038/ng0692-214.


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 alpha 1 and alpha 2 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-alpha 1 and p-N-alpha 2 collagen type I in the dermis and absence of processing of the p-N-I polypeptides in fibroblast cultures.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cattle
  • Cattle Diseases / genetics*
  • Cattle Diseases / metabolism
  • Child, Preschool
  • Collagen / genetics
  • Collagen / metabolism
  • Collagen / ultrastructure
  • Collagen Diseases / genetics
  • Collagen Diseases / metabolism
  • Collagen Diseases / veterinary*
  • Ehlers-Danlos Syndrome / classification
  • Ehlers-Danlos Syndrome / genetics*
  • Ehlers-Danlos Syndrome / metabolism
  • Female
  • Humans
  • Microscopy, Electron
  • Procollagen N-Endopeptidase / deficiency
  • Procollagen N-Endopeptidase / genetics
  • Skin / metabolism
  • Skin / pathology


  • Collagen
  • Procollagen N-Endopeptidase