Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease.
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.
Casaña
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P
Unidad de Coagulopatías Congénitas de la Comunidad Valenciana, Hospital Universitari La Fe, Valencia, Spain.
Martínez
F
F
Haya
S
S
Espinós
C
C
Aznar
J A
JA
D000483:Alleles; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012016:Reference Values; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor