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International Journal of Hematology

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11.10.2019 | Case Report

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

verfasst von: Toshio Shigekiyo, Hikaru Yagi, Etsuko Sekimoto, Hironobu Shibata, Shuji Ozaki, Masanori Matsumoto

Erschienen in: International Journal of Hematology | Ausgabe 3/2020

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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.

Sadler JE, Budde U, Eikenboom JCJ, Favaloro EJ, Hill FGH, Holmberg L, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor. J Thromb Haemost. 2006;4:2103–14.CrossRef

Ruggeri ZM, Zimmerman TS. Variant von Willebrand’s disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Investig. 1980;65:1318–25.CrossRef

Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici AB, Batlle J, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost. 2006;4:766–73.CrossRef

Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, et al. Phenotype and genotype of a cohort of families historically diagnosed type I von Willebrand disease in European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). Blood. 2007;109:112–21.CrossRef

Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ Jr, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood. 1987;69:1691–5.CrossRef

Legendre P, Navarrete A, Rayes J, Casari C, Boisseau P, Ternisien C, et al. Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein. Blood. 2013;121:2135–43.CrossRef

Fidalgo T, Oliveira A, Silva Pinto C, Martinho P, Ferreira G, Salvado R, et al. VWF collagen (types III and VI)-binding defects in a cohort of type 2M VWD patients–A strategy for improvement of a challenging diagnosis. Haemophilia. 2017;23:e143–7.CrossRef

Ribba AS, Loisei I, Lavergne JM, Juhan-Vague I, Obert B, Cherel G, et al. Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen. Thromb Haemost. 2001;86:848–54.CrossRef

Riddell AF, Gomez K, Millar CM, Mellars G, Gill S, Brown SA, et al. Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. Blood. 2009;114:3489–96.CrossRef

10.

Keeling D, Beavis J, Marr R, Sukhu K, Bignell P. A family with type 2M VWD with normal VWF:rCo but reduced VWF:CB and a M1761K mutation in the A3 domain. Haemophilia. 2012;18:e33.CrossRef

11.

Flood VH, Lederman CA, Wren JS, Christopherson PA, Friedman KD, Hoffmann RG, et al. Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD. J Thromb Haemost. 2010;8:1431–3.CrossRef

12.

Veyradier A, Boisseau P, Fressinaud E, Caron C, Ternisien C, Giraud M, et al. A laboratory phenotype/genotype correlation of 1167 French patients from 670 families with von Willebrand disease. A new epidemiologic picture. Medicine. 2016;95:1–10.CrossRef

Titel: Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease
verfasst von: Toshio Shigekiyo
Hikaru Yagi
Etsuko Sekimoto
Hironobu Shibata
Shuji Ozaki
Masanori Matsumoto
Publikationsdatum: 11.10.2019
Verlag: Springer Singapore
Erschienen in: International Journal of Hematology / Ausgabe 3/2020
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-019-02753-4

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Springer Medizin

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

Abstract

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