A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
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.
Christiano
A M
AM
Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
Greenspan
D S
DS
Hoffman
G G
GG
Zhang
X
X
Tamai
Y
Y
Lin
A N
AN
Dietz
H C
HC
Hovnanian
A
A
Uitto
J
J
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002648:Child; D003094:Collagen / Q000235:genetics*; D003241:Consanguinity; D006224:Cricetinae; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010802:Phylogeny; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
D003094:Collagen