[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Nusgens, Betty ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Laboratoire de Biologie des Tissus Conjonctifs
Verellen-Dumoulin, C.
Hermanns-Lê, Trinh ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
De Paepe, Anne; Universiteit Gent - Ugent > Center for Genetics
Pierard, Gérald ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
Lapiere, ChM; Université de Liège - ULiège > Département des Sciences biomédicales et Précliniques
Language :
English
Title :
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.
Publication date :
1992
Journal title :
Nature Genetics
ISSN :
1061-4036
eISSN :
1546-1718
Publisher :
Nature Publishing Group, New York, United States - New York
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