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Prepublished online as a Blood First Edition Paper on February 6, 2003; DOI 10.1182/blood-2002-12-3796.
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Blood, 1 June 2003, Vol. 101, No. 11, pp. 4449-4451
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY
Brief report
ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity
Süreyya Savasan,
Soon-Ki Lee,
David Ginsburg, and
Han-Mou Tsai
From the Children's Hospital of Michigan, Division of Hematology/Oncology, Wayne State University, Detroit, MI; the Howard Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI; and the Division of Hematology, Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, NY.
Deficiency of von Willebrand factor (VWF) cleaving protease ADAMTS13 is associated with the development of thrombotic thrombocytopenic purpura (TTP). A case of congenital TTP that was previously reported to have normal ADAMTS13 activity was analyzed at the molecular level. Reanalysis of plasma VWF cleaving protease activity using a different assay revealed that the patient had less than 0.1 U/L ADAMTS13 protease activity, while the parents were both partially deficient. Sequence analysis of DNA amplified by polymerase chain reaction showed that the patient was homozygous for a novel TT deletion in exon 15 of the ADAMTS13 gene resulting in a frameshift, while both parents were heterozygous for the same mutation. Taken together with other recent reports, all the cases of hereditary TTP studied by DNA sequence analysis to date appear to be due to mutations within the ADAMTS13 gene.
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