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Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa
Author(s) -
KOGA Hiroshi,
HAMADA Takahiro,
ISHII Norito,
FUKUDA Shunpei,
SAKAGUCHI Sachiko,
NAKANO Hajime,
TAMAI Katuto,
SAWAMURA Daisuke,
HASHIMOTO Takashi
Publication year - 2011
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2010.01008.x
Subject(s) - exon , milia , anchoring fibrils , exon skipping , genetics , mutation , dermatology , genodermatosis , splice site mutation , epidermolysis bullosa dystrophica , biology , medicine , gene , microbiology and biotechnology , pathology , epidermolysis bullosa , alternative splicing , ultrastructure
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.