ArticleCanine genetics and epidemiology2019
vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed.
Article in Canine genetics and epidemiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- One Health: Animal Models of Heritable Human Bleeding Diseases.Animals : an open access journal from MDPI · 2022Review
- Investigation of a common canine factor VII deficiency variant in dogs with unexplained bleeding on autopsy.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2022Article
- Case report of unilateral retrobulbar hematoma associated with von Willebrand disease in a Doberman Pinscher dog.Clinical case reports · 2021Article
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4 authors.
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Abstract
backgroundVon Willebrand disorder type I (vWDI) is known as an inherited bleeding disorder in different dog breeds following an autosomal recessive inheritance. The Kromfohrländer is a rare dog breed with an increased incidence of unclear bleeding episodes and prolonged coagulation time during/after surgery or injuries, indicating a defect in one or more critical proteins of the coagulation cascade.
objectiveThe objective of this study was to determine whether the c.7437G > A mutation in the
resultsEighty-seven Kromfohrländer were genotyped for the G > A von Willebrand type I mutation. For detection of the associated mutation we used an endpoint genotyping method. We identified the G > A von Willebrand type I mutation in 80.5% of our study population. 65.5% were heterozygous (WT/MUT) and 15.0% were homozygous for the mutation (MUT/MUT). 21% of the overall study population exhibited bleeding symptoms. 45.5% of all homozygous dogs (MUT/MUT) showed bleeding symptoms. In contrast, wild-type homozygotes exhibited no bleeding symptoms, whereas 23.2% of the heterozygotes did. VWF serum concentrations varied from 28 to 137% in wild-type dogs while in heterozygous and homozygous dogs the concentration ranged from 3 to 77% and 1 to 23%, respectively (
conclusionBased on our data, we found the G > A mutation in the
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