Literature DB >> 31605304

Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease.

Toshio Shigekiyo1, Hikaru Yagi2, Etsuko Sekimoto2, Hironobu Shibata2, Shuji Ozaki2, Masanori Matsumoto3.   

Abstract

The proband's von Willebrand factor (VWF) antigen and VWF collagen-binding capacity were 14% and 10%, respectively; his sister's were 16% and 9%, respectively; and his nephew's were 30% and 15%, respectively. No apparent loss of high-molecular weight VWF multimers was observed in the plasma of these patients. A single-nucleotide substitution of T to C was found at nucleotide position 113042 in their VWF gene, converting Leu1733 to Pro in the A3 domain. These results suggest that p.Leu1733Pro is responsible for type 2M von Willebrand disease in this family.

Entities:  

Keywords:  ABO blood type; Phenotypic variability; Type 2M VWD; VWF A3 domain; VWF collagen-binding capacity

Mesh：

Substances：

Year:  2019        PMID： 31605304     DOI： 10.1007/s12185-019-02753-4

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  12 in total

1.  A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD).

Authors:  A Tosetto; F Rodeghiero; G Castaman; A Goodeve; A B Federici; J Batlle; D Meyer; E Fressinaud; C Mazurier; J Goudemand; J Eikenboom; R Schneppenheim; U Budde; J Ingerslev; Z Vorlova; D Habart; L Holmberg; S Lethagen; J Pasi; F Hill; I Peake
Journal:  J Thromb Haemost       Date:  2006-04       Impact factor: 5.824

2.  Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Authors:  V H Flood; C A Lederman; J S Wren; P A Christopherson; K D Friedman; R G Hoffmann; R R Montgomery
Journal:  J Thromb Haemost       Date:  2010-03-23       Impact factor: 5.824

3.  VWF collagen (types III and VI)-binding defects in a cohort of type 2M VWD patients - a strategy for improvement of a challenging diagnosis.

Authors:  T Fidalgo; A Oliveira; C Silva Pinto; P Martinho; G Ferreira; R Salvado; T Sevivas; C Catarino; M L Ribeiro
Journal:  Haemophilia       Date:  2017-01-12       Impact factor: 4.287

Review 4.  Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.

Authors:  J E Sadler; U Budde; J C J Eikenboom; E J Favaloro; F G H Hill; L Holmberg; J Ingerslev; C A Lee; D Lillicrap; P M Mannucci; C Mazurier; D Meyer; W L Nichols; M Nishino; I R Peake; F Rodeghiero; R Schneppenheim; Z M Ruggeri; A Srivastava; R R Montgomery; A B Federici
Journal:  J Thromb Haemost       Date:  2006-08-02       Impact factor: 5.824

5.  Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets.

Authors:  Z M Ruggeri; T S Zimmerman
Journal:  J Clin Invest       Date:  1980-06       Impact factor: 14.808

6.  Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Authors:  Anne Goodeve; Jeroen Eikenboom; Giancarlo Castaman; Francesco Rodeghiero; Augusto B Federici; Javier Batlle; Dominique Meyer; Claudine Mazurier; Jenny Goudemand; Reinhard Schneppenheim; Ulrich Budde; Jorgen Ingerslev; David Habart; Zdena Vorlova; Lars Holmberg; Stefan Lethagen; John Pasi; Frank Hill; Mohammad Hashemi Soteh; Luciano Baronciani; Christer Hallden; Andrea Guilliatt; Will Lester; Ian Peake
Journal:  Blood       Date:  2006-09-19       Impact factor: 22.113

7.  Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen.

Authors:  A S Ribba; I Loisel; J M Lavergne; I Juhan-Vague; B Obert; G Cherel; D Meyer; J P Girma
Journal:  Thromb Haemost       Date:  2001-09       Impact factor: 5.249

8.  Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein.

Authors:  Paulette Legendre; Ana-Maria Navarrete; Julie Rayes; Caterina Casari; Pierre Boisseau; Catherine Ternisien; Claudine Caron; Edith Fressinaud; Jenny Goudemand; Agnès Veyradier; Cécile V Denis; Peter J Lenting; Olivier D Christophe
Journal:  Blood       Date:  2013-01-18       Impact factor: 22.113

9.  The effect of ABO blood group on the diagnosis of von Willebrand disease.

Authors:  J C Gill; J Endres-Brooks; P J Bauer; W J Marks; R R Montgomery
Journal:  Blood       Date:  1987-06       Impact factor: 22.113

10.  A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Authors:  Agnès Veyradier; Pierre Boisseau; Edith Fressinaud; Claudine Caron; Catherine Ternisien; Mathilde Giraud; Christophe Zawadzki; Marc Trossaert; Nathalie Itzhar-Baïkian; Marie Dreyfus; Roseline d'Oiron; Annie Borel-Derlon; Sophie Susen; Stéphane Bezieau; Cécile V Denis; Jenny Goudemand
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889
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