Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease

Ann Hematol. 2001 Jul;80(7):381-3. doi: 10.1007/s002770100307.

Abstract

Type 1 is the most frequent form of von Willebrand's disease, which is characterized by a quantitative partial deficiency of von Willebrand's factor. At present, only two mutations located in the D3 domain (C1149R, C1130F) have been reported to cause the classic type 1 variant. The 3467C>T transition that predicts the T1156M amino acid change was detected in seven patients from one family and was not found in 110 normal alleles screened. This is a candidate mutation to cause dominant type 1 variant with complete penetrance. On the other hand, neither of the two mutations mentioned above has been detected in the other 15 families studied with type 1 or possible type 1 patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Reference Values
  • von Willebrand Diseases / genetics*
  • von Willebrand Factor / genetics*

Substances

  • von Willebrand Factor