TAILIEUCHUNG - Báo cáo khoa học: A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

Coagulation factor XI (FXI) is the zymogen of a serine protease that, when converted to its active form, contributes to blood coagulation through proteolytic activation of factor IX. FXI deficiency is typically an autosomal recessive disorder, characterized by bleeding symptoms mainly associated with injury or surgery. | ễFEBS Journal A novel factor XI missense mutation Val371Ile in the activation loop is responsible for a case of mild type II factor XI deficiency Cristina Bozzao1 Valeria Rimoldi1 Rosanna Asselta1 Meytal Landau2 Rossella Ghiotto3 Maria L. Tenchini1 Raimondo De Cristofaro4 Giancarlo Castaman3 and Stefano Duga1 1 Department of Biology and Genetics for MedicalSciences University of Milan Italy 2 Department of Biochemistry George S. Wise Faculty of Life Science TelAviv University Israel 3 Department of Hematology and Hemophilia and Thrombosis Center San Bortolo Hospital Vicenza Italy 4 Haemostasis Research Centre Catholic University Schoolof Medicine Rome Italy Keywords coagulation factor XI deficiency functional characterization missense mutation mutational screening type II defect Correspondence S. Duga Department of Biology and Genetics for MedicalSciences University of Milan Via Viotti 3 5-20133 Milan Italy Fax 39 02 5031 5864 Tel 39 02 5031 5823 E-mail These authors contributed equally to this study Received 21 May 2007 revised 11 September 2007 accepted 8 October 2007 doi Coagulation factor XI FXI is the zymogen of a serine protease that when converted to its active form contributes to blood coagulation through proteolytic activation of factor IX. FXI deficiency is typically an autosomal recessive disorder characterized by bleeding symptoms mainly associated with injury or surgery. Of the more than 100 FXI gene mutations reported in FXI-deficient patients most are associated with a proportional decrease in FXI functional and immunologic levels type I defects whereas only a few mutations leading to the presence of dysfunctional molecules in plasma have been molecularly analyzed to date type II deficiencies . We report the functional and molecular characterization of a missense mutation Val371Ile identified in the heterozygous state in a 25-year-old Italian male with mild FXI deficiency. Laboratory analysis .

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