von Willebrand disease with G4022A mutation (vWd Sungnam): a case report
Journal of Korean Medical Science
;
: 93-96, 1999.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Maladies de von Willebrand
/
Facteur de von Willebrand
/
Mutation ponctuelle
/
Alanine
/
Glycine
Type d'étude:
Recherche qualitative
Limites du sujet:
Enfant
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
1999
Type:
Article
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