Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
A 12 y old girl with the albopapuloid variant (Pasini) of dominant dystrophic epidermolysis bullosa is studied. The albopapuloid lesions developed within the first year of life, contained milia and were associated with pruritus. Mutation detection of the COL7A1 gene revealed a G-->A transition at nucleotide position 6110 in the mutant allele converting a glycine to glutamic acid (G2037E). This report adds to the expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa.
Jonkman
M F
MF
Department of Dermatology, University Hospital Groningen, The Netherlands.
Moreno
G
G
Rouan
F
F
Oranje
A P
AP
Pulkkinen
L
L
Uitto
J
J
D019943:Amino Acid Substitution; D002648:Child; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012867:Skin / Q000378:metabolism
D003094:Collagen; D005998:Glycine