PMID: 11325649Apr 28, 2001Paper

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease

Haematologica
Pilar CasañaJ A Aznar

Abstract

von Willebrand's disease (vWD), the most common hereditary bleeding disorder in humans, is caused by qualitative and/or quantitative deficiencies of von Willebrand factor, and can manifest itself under several different phenotypes. Most of the molecular defects have been detected in qualitative variants involving exon 28 of the vWF gene. Patients from four unrelated families with different types of vWD were included in the mutation screening of this region. The whole exon 28 was analyzed in three gene specific fragments, two of them comprising the region involved in the platelet glycoprotein Ib vWF interaction. The search for mutations was carried out by single-stranded conformation polymorphism analysis. The mutations were then identified by automatic sequencing of the anomalous electrophoretic pattern samples. The following candidate mutations were detected. The 3941T-->A transversion, which predicts the amino acid change V1314D, was detected in a sporadic patient with type 2B vWD and severe thrombocytopenia. The 4309G-->A transition, resulting in the amino acid substitution A1437T, was identified in four patients classified as having type 2M vWD. Six unclassified patients from another family carry the 4135C-->T mutation, whi...Continue Reading

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