Premium
A novel mutation (Leu817Pro) causing type 2A von Willebrand disease
Author(s) -
Gemmati D.,
Serino M. L.,
Moratelli S.,
Ballerini G.,
Furbetta M.,
Lunghi B.,
Marchetti G.,
Bernardi F.
Publication year - 1996
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1996.00301.x
Subject(s) - von willebrand disease , missense mutation , von willebrand factor , mutation , exon , platelet , coagulopathy , medicine , gene , endocrinology , immunology , microbiology and biotechnology , biology , genetics
We studied a patient affected by von Willebrand disease type 2A who experienced several mild bleeding episodes and was characterized by markedly reduced haemostatic parameters. In the exon 28 of von Willebrand factor (vWF) gene a T to C transition at nucleotide 8680, resulting in the missense mutation Leu817Pro, was found in the heterozygous form in the patient and in two affected relatives. As suggested by the presence in platelets of a complete spectrum of vWF multimers as well as by the increased vWF antigen levels and improved haemostasis after DDAVP treatment, the mutation is compatible with normal multimerization, and could be responsible for a reduced stability or an impaired physiological secretion of vWF.