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Blood, 15 February 2004, Vol. 103, No. 4, pp. 1305-1310. Prepublished online as a Blood First Edition Paper on October 16, 2003; DOI 10.1182/blood-2003-06-1796. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-06-1796v1 103/4/1305    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Matsumoto, M. Articles by Fujimura, Y. Search for Related Content PubMed PubMed Citation Articles by Matsumoto, M. Articles by Fujimura, Y. Related Collections Hemostasis, Thrombosis, and Vascular Biology Cell Adhesion and Motility Gene Expression Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome Masanori Matsumoto, Koichi Kokame, Kenji Soejima, Masayoshi Miura, Syuhei Hayashi, Yasuhiko Fujii, Asayuki Iwai, Etsuro Ito, Yoichiro Tsuji, Mayuko Takeda-Shitaka, Mitsuo Iwadate, Hideaki Umeyama, Hideo Yagi, Hiromichi Ishizashi, Fumiaki Banno, Tomohiro Nakagaki, Toshiyuki Miyata, and Yoshihiro Fujimura From the Departments of Blood Transfusion Medicine and Health Science, Nara Medical University, Kashihara, Japan; the National Cardiovascular Center Research Institute, Suita, Japan; the First Research Department, the Chemo-Sero-Therapeutic Research Institute, Kumamoto, Japan; the Department of Pediatrics, Toyama City Hospital, Toyama, Japan; the Department of Pediatrics, Fukui Red Cross Hospital, Fukui, Japan; the Department of Blood Transfusion Medicine, Yamaguchi University School of Medicine, Ube, Japan; the Department of Pediatrics, Kagawa Children's Hospital, Zentsuji, Japan; the Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Japan; the Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan; and the School of Pharmaceutical Sciences, Kitasato University, Tokyo, Japan. We report here 7 new mutations in the ADAMTS13 gene responsible for Upshaw-Schulman syndrome (USS), a catastrophic phenotype of congenital thrombotic thrombocytopenic purpura, by analyzing 5 Japanese families. There were 3 mutations that occurred at exon-intron boundaries: 414+1G>A at intron 4, 686+1G>A at intron 6, and 1244+2T>G at intron 10 (numbered from the A of the initiation Met codon), and we confirmed that 2 of these mutations produced aberrantly spliced messenger RNAs (mRNAs). The remaining 4 mutations were missense mutations: R193W, I673F, C908Y, and R1123C. In expression experiments using HeLa cells, all mutants showed no or a marginal secretion of ADAMTS13. Taken together with the findings in our recent report we determined the responsible mutations in a total of 7 Japanese patients with USS with a uniform clinical picture of severe neonatal hyperbilirubinemia, and in their family members, based on ADAMTS13 gene analysis. Of these patients, 2 were homozygotes and 5 were compound heterozygotes. The parents of one homozygote were related (cousins), while those of the other were not. Molecular models of the metalloprotease, fifth domain of thrombospondin 1 (Tsp1-5), and Tsp1-8 domains of ADAMTS13 suggest that the missense mutations could cause structural defects in the mutants. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Galbusera, M. Noris, and G. Remuzzi Inherited thrombotic thrombocytopenic purpura Haematologica, February 1, 2009; 94(2): 166 - 170. [Full Text] [PDF] B. Lammle, J. A. Kremer Hovinga, and J. N. George Acquired thrombotic thrombocytopenic purpura: ADAMTS13 activity, anti-ADAMTS13 autoantibodies and risk of recurrent disease Haematologica, February 1, 2008; 93(2): 172 - 177. [Full Text] [PDF] J. Song, K. A Lee, T. S. Park, R. Park, and J. R. 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Prognostic value of anti-ADAMTS13 antibody features (Ig isotype, titer, and inhibitory effect) in a cohort of 35 adult French patients undergoing a first episode of thrombotic microangiopathy with undetectable ADAMTS13 activity Blood, April 1, 2007; 109(7): 2815 - 2822. [Abstract] [Full Text] [PDF] Y. Shibagaki, M. Matsumoto, K. Kokame, S. Ohba, T. Miyata, Y. Fujimura, and T. Fujita Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure Nephrol. Dial. Transplant., May 1, 2006; 21(5): 1289 - 1292. [Abstract] [Full Text] [PDF] F. Banno, K. Kokame, T. Okuda, S. Honda, S. Miyata, H. Kato, Y. Tomiyama, and T. Miyata Complete deficiency in ADAMTS13 is prothrombotic, but it alone is not sufficient to cause thrombotic thrombocytopenic purpura Blood, April 15, 2006; 107(8): 3161 - 3166. [Abstract] [Full Text] [PDF] Z. Tao, Y. Peng, L. Nolasco, S. Cal, C. 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