title: Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa.
abstract: Dystrophic epidermolysis bullosa (DEB) is a rare, inherited, blistering disorder resulting from mutations in the COL7A1 gene, which encodes the anchoring fibrils, type VII collagen. We herein describe a further Japanese girl diagnosed with dominant DEB (DDEB). She had blisters sporadically and erosions healed with mild scarring and milia on the knees and pretibial regions. Severe pruritus was present at this time. Direct nucleotide sequencing of genomic DNA disclosed a heterozygous same splice-site mutation c.6900G>A in the COL7A1, which causes in-frame exon 87 skipping. So far, five different COL7A1 mutations leading to exon 87 skipping have been identified in rare forms of DEB: four DDEB pruriginosa and one pretibial DDEB. Therefore, a recent study suggested that exon 87 skipping in COL7A1 was related to the phenotype of DDEB pruriginosa. When she was 18 years old, however, the blister formation and pruritus markedly decreased. Therefore, her clinical symptoms were consistent to very mild DDEB but not to DDEB pruriginosa. Taken together, in-frame exon 87 skipping through c.6900G>A mutation may account for the mild skin features, rather than DDEB pruriginosa, in the present case.
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, Asahimachi, Kurume, Fukuoka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Koga
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.forename: Norito
authors.initials: N
authors.lastname: Ishii
authors.forename: Shunpei
authors.initials: S
authors.lastname: Fukuda
authors.forename: Sachiko
authors.initials: S
authors.lastname: Sakaguchi
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Katuto
authors.initials: K
authors.lastname: Tamai
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D000293:Adolescent; D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005533:Foot Dermatoses / Q000235:genetics*; D006801:Humans; D007717:Knee; D007868:Leg Dermatoses / Q000235:genetics*; D014034:Toes
chemical_list: D024143:Collagen Type VII