J Korean Med Sci.  1999 Feb;14(1):93-96. 10.3346/jkms.1999.14.1.93.

von Willebrand disease with G4022A mutation (vWd Sungnam): a case report

• Song KS
• Kang SH
• Kang MS
• Park YS
• Choi JR
• Kim HK
• Park Q

• KMID: 1062205
• DOI: http://doi.org/10.3346/jkms.1999.14.1.93

Abstract

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.

Keyword

von Willebrand disease; Hemorrhage; Mutation

MeSH Terms

Alanine/genetics*
Case Report
Child
Glycine/genetics*
Human
Male
Point Mutation*
von Willebrand Disease/genetics*
von Willebrand Factor/genetics*