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Abstract Doberman single coat Von Willebrand disorder type I vWDI is known as an inherited bleeding disorder in different dog breeds following an autosomal recessive inheritance.

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Objective Doberman single coat objective of this study was to determine whether the c. Furthermore, establish a possible link between bleeding phenotype, vWF serum concentrations and VWF mutation status.

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For detection of the associated mutation we used an endpoint genotyping method. In contrast, wild-type homozygotes exhibited no bleeding symptoms, whereas Since both, heterozygotes and homozygotes show reduced vWF serum concentrations and exhibit to a certain percentage the vWD syndrome phenotype, we postulate that, in contrast to most other vWDI affected breeds, inheritance follows an autosomal dominant mode with incomplete penetrance.

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Plain english summary A variety of bleeding diseases are known in dogs including von Willebrand disease type I. This genetic disorder affects the von Willebrand factor in plasma which is important for blood clotting. A genetic mutation known from the Doberman Pinscher was also doberman single coat in other dog breeds including the Kromfohrländer.

Inheritance of the disorder is described in most breeds as autosomal recessive trait resulting in mild bleeding symptoms. The Kromfohrländer is an especially rare breed based on two founders which was established in the years after Doberman single coat War II in Germany.

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For this reason we were interested in finding a link between the von Willebrand disease type I mutation and a reduced plasma von Willebrand factor leading to bleeding symptoms in this breed Genetic testing of Kromfohrländer for von Willebrand type I mutation revealed a high number of heterozygous dogs for doberman single coat mutation. Determination of the plasma factor showed that dogs heterozygous and homozygous for the vWDI mutation have a clearly reduced plasma level compared to wild-type dogs.

Doberman single coat increases the risk for developing symptoms of a blood coagulation disorder due to the reduced von Willebrand factor concentrations.

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In most breeds, inheritance of von Willebrand disease type I is described as an autosomal recessive trait. In the Kromfohrländer breed, symptoms of bleeding were not only observed in homozygous but also in heterozygous dogs.

Based on this finding, heredity of von Willebrand Disease type I in the Kromfohrländer follows an autosomal dominant inheritance with incomplete penetrance resulting in severe bleeding symptoms in the Kromfohrländer breed. To avoid further distribution of the mutation within the population it would be of importance to perform genetic testing with a long term breeding program for reducing the number of heterozygous and homozygous dogs without an additional reduction doberman single coat the genetic diversity.

doberman single coat

Background The von Willebrand factor vWF is a large multimeric plasma glycoprotein doberman single coat for platelet adhesion and aggregation. Doberman single coat multimers vary in size and circulate in the blood plasma. Doberman single coat dogs and in humans vWD is one of the most common inherited bleeding disorders [ 12 ].

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This type is characterized by low plasma vWF concentrations responsible for mild to moderate bleeding symptoms. Patients with a doberman single coat II disorder have variably reduced vWF in plasma with an abnormal multimeric structure resulting in moderate to severe bleeding.

This second variant possibly acts in concert with the long thought causative vWDII mutation to cause the bleeding disorder in the Pointer breeds.

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This is the most severe form of vWD with no detectable amount of vWF in plasma [ 13 ]. This base substitution activates a cryptic splice site just few nucleotides upstream of the normal splice site. The resulting frame shift leads to the formation of a truncated protein of amino acids [ 15 ].

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The same mutation was also found in various other breeds [ 16 ]. In most of these breeds inheritance of vWDI was described as an autosomal recessive trait unlike the human disorder, which is inherited in an autosomal dominant manner with incomplete penetrance.

Translation of "pinscher" in German

The Kromfohrländer Fig. The Kromfohrländer is an exceptionally rare breed with a small number of registered dogs in different stud books. In7 dogs of this breed were registered in Austria and in Germany.

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