Original article

Annals of Hematology

, Volume 80, Issue 7, pp 381-383

First online:

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

  • P. CasañaAffiliated withUnidad de Coagulopatías Congénitas de la Comunidad Valenciana, Hospital Universitari La Fe
  • , F. MartínezAffiliated withUnidad de Genética y Diagnóstico Prenatal, Hospital Universitari La Fe
  • , S. HayaAffiliated withUnidad de Coagulopatías Congénitas de la Comunidad Valenciana, Hospital Universitari La Fe
  • , C. EspinósAffiliated withUnidad de Coagulopatías Congénitas de la Comunidad Valenciana, Hospital Universitari La Fe
  • , J. AznarAffiliated withUnidad de Coagulopatías Congénitas de la Comunidad Valenciana, Hospital Universitari La Fe

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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.

Von Willebrand's disease Type 1 von Willebrand's disease Mutation detection