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Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa

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Title: Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa
Authors: Sawamura, Daisuke Browse this author
Goto, Maki Browse this author
Yasukawa, Kana Browse this author
Sato-Matsumura, Kazuko Browse this author
Nakamura, Hideki Browse this author
Ito, Kei Browse this author
Nakamura, Hiroyuki Browse this author
Tomita, Yuki Browse this author
Shimizu, Hiroshi Browse this author →KAKEN DB
Keywords: Type VII collagen
Glycine substitution
Issue Date: Oct-2005
Publisher: Springer
Journal Title: Journal of Human Genetics
Volume: 50
Issue: 10
Start Page: 543
End Page: 546
Publisher DOI: 10.1007/s10038-005-0290-4
PMID: 16189623
Abstract: 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
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 澤村 大輔

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