EVIDENCE FOR A RELATIONSHIP BETWEEN EHLERS-DANLOS TYPE-VII-C IN HUMANS AND BOVINE DERMATOSPARAXIS

被引：100

作者：

NUSGENS, BV

VERELLENDUMOULIN, C

HERMANNSLE, T

DEPAEPE, A

NUYTINCK, L

PIERARD, GE

LAPIERE, CM

机构：

[1] CATHOLIC UNIV LOUVAIN, CTR MED GENET, B-1200 BRUSSELS, BELGIUM

[2] STATE UNIV GHENT HOSP, DEPT MED GENET, B-9000 GHENT, BELGIUM

来源：

NATURE GENETICS | 1992年 / 1卷 / 03期

关键词：

D O I：

10.1038/ng0692-214

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：214 / 217

页数：4

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