von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers

Brooks, Marjory B.; Erb, Hollis N.; Foureman, Polly; Ray, Kunal

doi:10.2460/ajvr.2001.62.364

Cited by 17 publications

(13 citation statements)

References 22 publications

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“…We used a previously described enzyme-linked immunosorbent assay 29 to measure plasma von Willebrand factor (VWF) concentration and determined VWF multimer distribution via immunoelectrophoresis and Western blotting. 30,31 We assayed ristocetin cofactor activity (RCof) by measuring agglutination of formalin-fixed human platelets (Biodata, Horsham, PA) in dilutions of test plasma. We measured plasma antithrombin, protein C, plasminogen, and antiplasmin activities using chromogenic substrate kits (STAChrom, Diagnostica Stago) and the manufacturer's automated analyzer (STA Compact).…”

Section: Coagulation Von Willebrand Factor and Fibrinolysis Assaysmentioning

confidence: 99%

A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity

Brooks

Catalfamo

Brown

et al. 2002

Blood

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We have discovered a novel canine hereditary bleeding disorder with the characteristic features of Scott syndrome, a rare defect of platelet procoagulant activity. Affected dogs were from a single, inbred colony and experienced clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery. The hemostatic abnormalities identified were restricted to tests of platelet procoagulant activity, whereas platelet count, platelet morphology under light microscopy, bleeding time, clot retraction, and platelet aggregation and secretion in response to thrombin, collagen, and adenosine diphosphate stimulation were all within normal limits. Washed platelets from the affected dogs demonstrated approximately twice normal clotting times in a platelet factor 3 availability assay and, in a prothrombinase assay, generated only background levels of thrombin in response to calcium ionophore, thrombin, or combined thrombin plus collagen stimulation. While platelet phospholipid content was normal, flow cytometric analyses revealed diminished phosphatidylserine exposure and a failure of microvesiculation in response to calcium ionophore, thrombin, and collagen stimulation. Pedigree studies indicate a likely homozygous recessive inheritance pattern of the defect. These findings confirm the importance of platelet procoagulant activity for in vivo hemostasis and provide a large animal model for studying agonist-induced signal transduction, calcium mobilization, and effector pathways involved in the late platelet response of transmembrane phospholipid movement and membrane vesiculation. (Blood. 2002; 99:2434-2441)

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Section: Coagulation Von Willebrand Factor and Fibrinolysis Assaysmentioning

confidence: 99%

A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity

Brooks

Catalfamo

Brown

et al. 2002

Blood

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“…The vWF : Ag intra-and interassay reproducibility are good, but the value of a single sample assay at the carrier to normal threshold is limited by the individual dog's daily and weekly vWF : Ag variation. 3,17,27 …”

Section: Elisa Vwf : Ag Assaymentioning

confidence: 99%

“…[1][2][3][4][5]9,10,12,[16][17][18][19][22][23][24][25][26][27][28][29] Human and canine von Willebrand's factor genes (VWF) are about 85% identical in nucleotide sequence, and anti-human vWF antibodies cross-react with canine vWF, permitting the cross-species modeling of their vWDs. 3,7,20,28,29 This blood clotting factor is produced by the vascular endothelium, subendothelium, and megakaryocytes, and it stabilizes clotting factor VIII and aids platelet adhesion to the vascular subendothelium. 9,11,24 In plasma, vWF circulates as multimers of 1-20 subunits of the ϳ300 kDa monomer, forming the largest protein molecules in blood.…”

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confidence: 99%

“…Although important in blood clotting, partial or complete absence of vWF from blood is not always lethal to otherwise normal dogs, and vWD may go undiagnosed for years. 3 vWD is the most common inherited hemostatic disorder of dogs. 12 Canine type-1 vWD occurs in many breeds and has the greatest known prevalence.…”

mentioning

confidence: 99%

“…In the Doberman Pinscher breed, type-1 vWD is associated with VWF polymorphisms and appears to show a complex inheritance pattern, although a single mutation in the VWF gene appears to be necessary for the presentation of the disease phenotype (Venta et al, unpublished). 3,10 Type-3 vWDs are lethal, simple autosomal recessive disorders in the Shetland Sheepdog, Chesapeake Bay Retriever, Scottish Terrier, and Dutch Kooiker breeds, characterized by the complete absence of detectable vWF. 22,25,28,29 In the Scottish Terrier, the vWD is the result of single nucleotide deletion in the exon region encoding vWF prepeptide.…”

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confidence: 99%

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A von Willebrand's Factor Genomic Nucleotide Variant and Polymerase Chain Reaction Diagnostic Test Associated with Inheritable Type-2 von Willebrand's Disease in a Line of German Shorthaired Pointer Dogs

et al. 2004

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Heritable, type-2 von Willebrand's disease (vWD) was studied in a line of German Shorthaired Pointers (GSPs) in which some members had a nucleotide variant in exon 28 of the von Willebrand factor (VWF) gene. A polymerase chain reaction (PCR) diagnostic test for the nucleotide variant was developed to establish the disorder's mode of inheritance and to eliminate it from the line. Thirty-six of the 49 GSPs in the line, 14 unrelated GSP controls, and 71 unrelated dogs of various breeds were tested for the presence of the variant nucleotide. All the dogs with a vWF antigen deficiency (<70% of normal) were either homozygous or heterozygous for the nucleotide variant. The variant was not located in any tested dog in the line or outside of the line with a vWF antigen value greater than 68%. Of the GSPs in the line tested, two were homozygous for the variant, 15 were heterozygous, and 19 were variant free. The collective evidence of this and other studies is consistent with the variant nucleotide being the cause of the type-2 vWD in this line of GSPs and German Wirehaired Pointers. The PCR diagnostic test for the variant nucleotide was successfully used to select and produce progeny that were variant free and vWD free. This test should be effective in the subsequent elimination of this same variant from other lines of dogs.

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Hereditary Oral Disorders in Purebred Dogs and Cats

Gawor¹

2021

The Veterinary Dental Patient

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von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers

Abstract: Type-1 von Willebrand disease in Doberman Pinschers is associated with the von Willebrand factor gene locus; however, the expression pattern in this breed appears more complex than that of a simple recessive trait.

Cited by 17 publications

References 22 publications

A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity

A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity

A von Willebrand's Factor Genomic Nucleotide Variant and Polymerase Chain Reaction Diagnostic Test Associated with Inheritable Type-2 von Willebrand's Disease in a Line of German Shorthaired Pointer Dogs

Hereditary Oral Disorders in Purebred Dogs and Cats

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