von Willebrand disease with G4022A mutation (vWd Sungnam): a case report
Journal of Korean Medical Science
;
: 93-96, 1999.
Article
in English
| WPRIM
| ID: wpr-92734
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Von Willebrand Diseases
/
Von Willebrand Factor
/
Point Mutation
/
Alanine
/
Glycine
Type of study:
Qualitative research
Limits:
Child
/
Humans
/
Male
Language:
English
Journal:
Journal of Korean Medical Science
Year:
1999
Type:
Article
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