Abstract | BACKGROUND: METHODS AND RESULTS: We investigated nine patients with recurrent type of disease with familiar origin and twelve relatives. Samples were taken in a remission of disease. We measured activity of ADAMTS13 (vWF-CP) with modified method of the quantitative immunoblotting of degraded vWF multimers. Mutation screening was carried out by sequencing all 29 exons and flanking intron regions of the ADAMTS13 gene. Five distinct mutations were found. Three of them are novel. CONCLUSIONS: Mutation analysis of the ADAMTS 13 gene brought interesting results in eight patients. We found a one single base frameshift insertion, 4143insA in 8 of 9 unrelated individuals. This investigation represents an advantage in the differential diagnosis of disease since the thrombotic thrombocytopenic purpura phenotype in childhood can be variable and rapid detection of mutation is helpful for the recurrence prevention.
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Authors | I Hrachovinová, S Rittich, P Salaj, J Suttnar, J E Dyr, T Suláková, J Pták, P Dulícek, T Seeman |
Journal | Casopis lekaru ceskych
(Cas Lek Cesk)
Vol. 145
Issue 5
Pg. 390-2
( 2006)
ISSN: 0008-7335 [Print] Czech Republic |
Vernacular Title | Vrozená forma trombotickté trombocytopenické purpury. |
PMID | 16755777
(Publication Type: Journal Article)
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Chemical References |
- von Willebrand Factor
- ADAM Proteins
- ADAMTS13 Protein
- ADAMTS13 protein, human
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Topics |
- ADAM Proteins
(genetics)
- ADAMTS13 Protein
- Child
- Frameshift Mutation
- Humans
- Mutation
- Purpura, Thrombotic Thrombocytopenic
(genetics)
- von Willebrand Factor
(genetics)
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