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Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa

JHumGenet_v50p543.pdf132.37 kBPDF見る/開く

タイトル: Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa
著者: Sawamura, Daisuke 著作を一覧する
Goto, Maki 著作を一覧する
Yasukawa, Kana 著作を一覧する
Sato-Matsumura, Kazuko 著作を一覧する
Nakamura, Hideki 著作を一覧する
Ito, Kei 著作を一覧する
Nakamura, Hiroyuki 著作を一覧する
Tomita, Yuki 著作を一覧する
Shimizu, Hiroshi 著作を一覧する
キーワード: Type VII collagen
Glycine substitution
発行日: 2005年10月
出版者: Springer
誌名: Journal of Human Genetics
巻: 50
号: 10
開始ページ: 543
終了ページ: 546
出版社 DOI: 10.1007/s10038-005-0290-4
抄録: Dystrophic EB (DEB) is clinically characterized by mucocutaneous blistering in response to minor trauma, followed by scarring and nail dystrophy, and is caused by mutations in the COL7A1 gene encoding type VII collagen. DEB is inherited in either an autosomal dominant (DDEB) or recessive (RDEB) fashion. DDEB basically results from a glycine substitution mutation within the collagenous domain on one COL7A1 allele, while a combination of mutations such as premature stop codon, missense, splice-site mutations on both alleles causes RDEB. This study performed mutation analysis in 20 distinct Japanese DEB families (16 RDEB and 4 DDEB). The result demonstrated 30 pathogenic COL7A1 mutations with 16 novel mutations, which included 4 missense, 5 nonsense, 1 deletion, 2 insertion, 1 indel, 3 splice-site mutations. We confirmed that Japanese COL7A1 mutations were basically family specific although 3 mutations 5818delC, 6573+1G>C, E2857X were recurrent based on previous reports. Furthermore, Q2827X mutation found in two unrelated families would be regarded as a candidate recurrent Japanese COL7A1 mutation. The study furthers our understanding of both the clinical and allelic heterogeneity displayed in Japanese DEB patients.
Rights: The original publication is available at
資料タイプ: article (author version)
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 澤村 大輔


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