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

Authors
 Kyung Soon Song  ;  Shin Heh Kang  ;  Myung Seo Kang  ;  Young Sook Park  ;  Jong Rak Choi  ;  Hyun Kyung Kim  ;  Quhen Park 
Citation
 Journal of Korean Medical Science, Vol.14(1) : 93-96, 1999 
Journal Title
 Journal of Korean Medical Science 
ISSN
 1011-8934 
Issue Date
1999
MeSH
Alanine/genetics* ; Child ; Glycine/genetics* ; Humans ; Male ; Point Mutation* ; von Willebrand Diseases/genetics* ; von Willebrand Factor/genetics*
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.
Files in This Item:
T199902770.pdf Download
DOI
10.3346/jkms.1999.14.1.93
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/174225
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