A MISSENSE MUTATION IN TYPE-VII COLLAGEN IN 2 AFFECTED SIBLINGS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

被引：171
作者：
CHRISTIANO, AM
GREENSPAN, DS
HOFFMAN, GG
ZHANG, X
TAMAI, Y
LIN, AN
DIETZ, HC
HOVNANIAN, A
UITTO, J
机构：
[1] THOMAS JEFFERSON UNIV,JEFFERSON MED COLL,JEFFERSON INST MOLEC MED,DEPT DERMATOL,PHILADELPHIA,PA 19107
[2] THOMAS JEFFERSON UNIV,JEFFERSON MED COLL,JEFFERSON INST MOLEC MED,DEPT BIOCHEM & MOLEC BIOL,PHILADELPHIA,PA 19107
[3] UNIV WISCONSIN,DEPT PATHOL & LAB MED,MADISON,WI 53706
[4] ROCKEFELLER UNIV,INVEST DERMATOL LAB,NEW YORK,NY 10021
[5] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT CARDIOL,BALTIMORE,MD 21205
[6] JOHNS HOPKINS UNIV,SCH MED,DEPT MED GENET,BALTIMORE,MD 21205
[7] HOP HENRI MONDOR,INSERM,U91,MOLEC GENET LAB,F-94010 CRETEIL,FRANCE
来源：
NATURE GENETICS | 1993年 / 4卷 / 01期
关键词：
D O I：
10.1038/ng0593-62
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Recessive dystrophic epidermolysis bullosa is a severe mutilating genodermatosis. Previous ultrastructural demonstrations of altered anchoring fibrils, and recent genetic linkage analyses have suggested that type VII collagen, the major component of anchoring fibrils, is a candidate gene. We have identified a homozygous methionine-to-lysine mutation in two affected siblings, while their unaffected mother and half-brother are heterozygous carriers. The mutation resides in a highly conserved region of the C-terminus of type VII collagen, strongly suggesting that it is the cause of the disease in this family.
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收藏
页码：62 / 66
页数：5
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