Association of the 3467C>T mutation (T1156M) in the von Willebrands factor gene with dominant type 1 von Willebrands disease

Abstract

[EN] Type I 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 I 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 I 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 I or possible type 1 patients.