title: A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
abstract: Epidermolysis bullosa (EB) pruriginosa is a subtype of dominant dystrophic EB (DDEB), characterized by severe pruritus and blistering localized to the extensor surface of the extremities. EB pruriginosa exhibits extensive clinical heterogeneity with variable expression and delayed age of onset. Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB. Here, we report a novel COL7A1 mutation in a Taiwanese pedigree with EB pruriginosa. Using PCR and direct sequence analysis we have identified a G-->T transversion at nucleotide 7097 in exon 92 of COL7A1, converting a glycine residue to valine (G2366V). The mutation resides within a consecutive, uninterrupted stretch of 17 Gly-X-Y residues in the triple-helical domain of type VII collagen. Interestingly, an affected member of this family also displayed elevated IgE levels, previously reported in some patients with this disorder. Our finding further implicates COL7A1 mutation in the pathogenesis of EB pruriginosa and underscores the heterogeneous clinical symptoms of glycine mutations in DDEB.
authors.affiliation: Department of Deramatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: G S
authors.initials: GS
authors.lastname: Chuang
authors.forename: A
authors.initials: A
authors.lastname: Martinez-Mir
authors.forename: H-S
authors.initials: HS
authors.lastname: Yu
authors.forename: F-Y
authors.initials: FY
authors.lastname: Sung
authors.forename: R Y
authors.initials: RY
authors.lastname: Chuang
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D001483:Base Sequence; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D024143:Collagen Type VII