von Willebrand disease with G4022A mutation (vWd Sungnam): a case report.
10.3346/jkms.1999.14.1.93
- Author:
Kyung Soon SONG
1
;
Shin Heh KANG
;
Myung Seo KANG
;
Young Sook PARK
;
Jong Rak CHOI
;
Hyun Kyung KIM
;
Quhen PARK
Author Information
1. Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea. kssong@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
von Willebrand disease;
Hemorrhage;
Mutation
- MeSH:
Alanine/genetics*;
Case Report;
Child;
Glycine/genetics*;
Human;
Male;
Point Mutation*;
von Willebrand Disease/genetics*;
von Willebrand Factor/genetics*
- From:Journal of Korean Medical Science
1999;14(1):93-96
- CountryRepublic of Korea
- Language:English
-
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.
