Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences

• Authors: MICHIELS Jan Jacques; HANSEN D. Flemming; SMEJKAL Petr; FIDALGO Tereza; BATTLE Francisco Javier; BLATNY Jan; PENKA Miroslav; BATOROVA Angelika; PRIGANCOVA Tatiana; BUDDE Ulrich; VANGENECHTEN Inge; GADISSEUR Alain
• Year of publication: 2019
• Type: Article in Periodical
• Magazine / Source: Acta Scientific Medical Sciences
• MU Faculty or unit: Faculty of Medicine
• Web: https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf
• Keywords: Von Willebrand Disease; Molecular Etiology; 2N Due
• Description: The FVIII binding site on von Willebrand factor (VWF) is located in the D’ (766-864) and D3 (1054-1060) regions of the VWF gene. The cysteine residues in the D’ domain form disulfide bridges within the D’ trypsin-inhibitor-like (TIL’) and E’ regions,and these are of critically importance for the binding between TIL’E’ and FVIII. We analyzed the molecular etiology and laboratory phenotype of von Willebrand disease (VWD) 2N patients reported in the literature and added personal experiences from three European VWF VWD Research Centers.