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KMID : 0191119990140010093
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Journal of Korean Medical Science
1999 Volume.14 No. 1 p.93 ~ p.96
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von Willebrand disease with G4022A mutation (vWd Sungnam): a case report
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Song KS
Kang SH/Kang MS/Park YS/Choi JR/Kim HK/Park Q
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Abstract
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A 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies. The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma. An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced. We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln. Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed. We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease.
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KEYWORD
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