von Willebrand disease with G4022A mutation (vWd Sungnam): a case report
Journal of Korean Medical Science
;
: 93-96, 1999.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doenças de von Willebrand
/
Fator de von Willebrand
/
Mutação Puntual
/
Alanina
/
Glicina
Tipo de estudo:
Pesquisa qualitativa
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
1999
Tipo de documento:
Artigo
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