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, and splice-site mutations on both alleles causes RDEB. In this study, mutation analysis was performed in 20 distinct Japanese DEB families (16 RDEB and four DDEB). The result demonstrated 30 pathogenic COL7A1 mutations with 16 novel mutations, which included four missense, five nonsense, one deletion, two insertion, one indel, and three splice-site mutations. We confirmed that Japanese COL7A1 mutations were basically family specific, although three mutations, 5818delC, 6573+1G>C, and E2857X, were recurrent based on previous reports. Furthermore, the 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.
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Change history
01 September 2006
In Table 1 and in Result and discussion section, C2875F should read C2876F.
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Acknowledgements
The authors wish to thank Akari Nagasaki and Megumi Sato for technical assistance and Dr. James R. McMillan for proofreading and comments concerning this manuscript. This work was supported in part by a Grant-In-Aid for Scientific Research from the Japanese Society for the Promotion of Science (15390337 to D.S., 13357008 to H.S., and 15390336 to H.S.) and by a Health and Labor Sciences Research Grant (Research on Measures for Intractable Diseases to H.S.). Informed consent both for the research and for publication of the photographs was obtained from the families in this study. We thank the patients and their families for their interest in our study. We thank the referring physicians at Kyushu University, Nara Medical University, Asahikawa Medical College, National Hospital Organization Okayama Medical Center, Shimada Municipal Hospital, the University of Yamanashi, Kakogawa Municipal Hospital, Kanazawa Medical University, and Osaka Red Cross Hospital for providing clinical information on the patients.
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Sawamura, D., Goto, M., Yasukawa, K. et al. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. J Hum Genet 50, 543–546 (2005). https://doi.org/10.1007/s10038-005-0290-4
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DOI: https://doi.org/10.1007/s10038-005-0290-4
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