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A novel de novo splice‐site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa
Author(s) -
Saito M.,
Masunaga T.,
Ishiko A.
Publication year - 2009
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2009.03254.x
Subject(s) - proband , exon , exon skipping , splice site mutation , medicine , epidermolysis bullosa , phenotype , mutation , genetics , epidermolysis bullosa dystrophica , dermatology , genodermatosis , gene , biology , alternative splicing
Summary We report a Japanese infant who had a novel de novo splice‐site mutation in the COL7A1 gene, which resulted in in‐frame exon 87 skipping. Very interestingly, most of the previously reported cases with the same exon skipping presented as dystrophic epidermolysis bullosa (DEB) pruriginosa. The proband in this study showed an extremely mild clinical phenotype, with no nail dystrophy, pruritus or prurigo‐like lesions. However, dominant (DDEB) pruriginosa often shows a typical mild DEB phenotype until the onset of pruritus, making it likely that as she gets older the proband will present with features consistent with DDEB pruriginosa. By knowing in advance the anticipated clinical course, it might be possible to reduce or even prevent development of nodular prurigo‐like lesions by sufficient control of pruritus. Our study should contribute to further refinement of the genotype–phenotype correlations in DEB, emphasizing the significance of mutation analysis for correct diagnosis and possibly for prediction of prognosis.