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Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.
- Source :
-
Nature genetics [Nat Genet] 1992 Jun; Vol. 1 (3), pp. 214-7. - Publication Year :
- 1992
-
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 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.
- Subjects :
- Animals
Cattle
Cattle Diseases metabolism
Child, Preschool
Collagen genetics
Collagen metabolism
Collagen ultrastructure
Collagen Diseases genetics
Collagen Diseases metabolism
Ehlers-Danlos Syndrome classification
Ehlers-Danlos Syndrome metabolism
Female
Humans
Microscopy, Electron
Procollagen N-Endopeptidase deficiency
Procollagen N-Endopeptidase genetics
Skin metabolism
Skin pathology
Cattle Diseases genetics
Collagen Diseases veterinary
Ehlers-Danlos Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 1
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 1303238
- Full Text :
- https://doi.org/10.1038/ng0692-214