A large deletion identified in a Swedish family with type 1 VWD

Anna M. Johansson; Elsa Lanke; Torbjörn Säll; Stefan Lethagen; Christer Halldén

doi:10.1160/TH10-08-0556

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2011; 105(04): 733-734
DOI: 10.1160/TH10-08-0556

Letters to the Editor

Schattauer GmbH

A large deletion identified in a Swedish family with type 1 VWD

Anna M. Johansson

¹Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden

,

Elsa Lanke

²Department for Coagulation Disorders, University Hospital, Malmö, Sweden

³Department of Clinical Genetics, Lund University Hospital, Lund, Sweden

,

Torbjörn Säll

⁴Department of Biology, Lund University, Lund, Sweden

,

Stefan Lethagen

²Department for Coagulation Disorders, University Hospital, Malmö, Sweden

⁵Copenhagen Haemophilia Centre, Copenhagen University Hospital, Copenhagen, Denmark

⁶Medical & Science, Haemostasis, Global Development, Novo Nordisk A/S, Copenhagen, Denmark

,

Christer Halldén

⁷Department of Laboratory Medicine, Lund University, Malmö, Sweden

⁸Kristianstad University, Section Biomedicine, Kristianstad, Sweden

References
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2 Cumming A, Grundy P, Keeney S. et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006; 96: 630-641.
3 Goodeve A, Eikenboom J, Castaman G. et al. Pheno-type 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). Blood 2007; 109: 112-121.
4 James PD, Notley C, Hegadorn C. et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007; 109: 145-154.
5 Sutherland MS, Cumming AM, Bowman M. et al. A novel deletion mutation is recurrent in von Wille-brand disease types 1 and 3. Blood 2009; 114: 1091-1098.
6 Yu C, Dawson G, Munson J. et al. Presence of large deletions in kindreds with autism. Am J Hum Genet 2002; 71: 100-115.
7 Yi L, Xu Z-F, Mo X-M. et al. New tetranucleotide STRP markers for detecting the 22q11.2 deletion. Mol Cell Probes 2006; 20: 359-365.
8 Johansson AM, Hillarp A, Säll T. et al. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. Thromb Haemost 2005; 94: 951-957.
9 Lanke E, Johansson AM, Halldén C. et al. Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype. J Thromb Haemost 2005; 3: 2656-2663.

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