Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor

Eur J Haematol. 1993 Jul;51(1):38-44.

Abstract

Recently, several von Willebrand factor gene mutations resulting in type IIA von Willebrand's disease have been reported. We examined 8 patients from Sweden and Denmark with this phenotype and found two new candidate mutations and a hitherto unknown amino acid polymorphism. One patient had a de novo occurring mutation resulting in substitution of glycine for arginine 834. Previous reports have demonstrated conversion of arginine 834 to tryptophan or glutamine in IIA patients. A 2nd patient had a G(4825)-->A transition, substituting arginine for glycine 846. The transition produces a sequence congruent with that of the pseudogene but several lines of evidence indicate that a sequencing error due to influence by the latter could be excluded. The remaining 6 patients had one of the earlier described substitution mutations: Ser743-->Leu and Ile865-->Thr. In addition, two sequence variations not linked to the phenotype were found, namely Tyr821-->Cys and Val802-->Leu.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Amino Acid Sequence
  • Arginine*
  • Base Sequence
  • Child
  • Cysteine
  • DNA / blood
  • Female
  • Genetic Markers
  • Glycine*
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • Tyrosine*
  • von Willebrand Diseases / genetics*
  • von Willebrand Factor / genetics*

Substances

  • Genetic Markers
  • Oligodeoxyribonucleotides
  • von Willebrand Factor
  • Tyrosine
  • DNA
  • Arginine
  • Cysteine
  • Glycine