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 Blood, 1 October 2004, Vol. 104, No. 7, pp. 2081-2083.
Prepublished online as a Blood First Edition Paper on May 4, 2004; DOI 10.1182/blood-2004-02-0715.

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HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY
Brief report

Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura

Toshihiro Uchida, Hideo Wada, Minoru Mizutani, Miho Iwashita, Hiroaki Ishihara, Toshiro Shibano, Misako Suzuki, Yumiko Matsubara, Kenji Soejima, Masanori Matsumoto, Yoshihiro Fujimura, Yasuo Ikeda, and Mitsuru Murata, for The Research Project on Genetics of Thrombosis

From New Product Research Laboratories II, Daiichi Pharmaceutical, Tokyo, Japan; Department of Laboratory Medicine, Mie University School of Medicine, Tsu, Japan; Department of Internal Medicine, Yamada Red Cross Hospital, Watarai-gun, Japan; Department of Medicine, Keio University, Tokyo, Japan; First Research Department, The Chemo-Sero-Therapeutic Research Institute, Kumamoto, Japan; and Department of Blood Transfusion, Nara Medical University, Kashihara, Japan.

Congenital thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS) is associated with an inherited von Willebrand factor-cleaving protease (ADAMTS13 [a disintegrin and metalloprotease with thrombospondin type I domains 13]) deficiency. In this study, we identified novel mutations in the ADAMTS13 gene in a patient with TTP. The patient was a 51-year-old Japanese male who exhibited TTP symptoms at frequent intervals. The ADAMTS13 activity during acute episodes was less than 3% that of normal. The enzyme activities of the patient's father and mother were both 46%, and both parents were asymptomatic. Genetic analysis revealed that the patient was a compound heterozygote for 2 mutations. One mutation was a missense mutation in the metalloprotease domain (A250V, exon 7), and the other was a guanine to adenine substitution at the 5' end of intron 3 (intron 3 G->A). In vitro expression studies revealed that the A250V mutation markedly reduced ADAMTS13 activity and the intron 3 G->A mutation caused abnormal mRNA synthesis. (Blood. 2004;104: 2081-2083)


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