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

Type I is the most frequent form of von Willebrand's disease, which is char acterized by a quantitative partial deficiency of von Willebrand's factor. At present, only two mutations located in the D3 domain (C1149R, C1130F) ha ve been reported to cause the classic type I variant. The 3467C>T transitio n 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 penetra nce. On the other hand, neither of the two mutations mentioned above has be en detected in the other 15 families studied with type I or possible type 1 patients.