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Prekallikrein deficiency in a dog
Takumi Okawa1, Takuma Yanase, Takako Shimokawa Miyama
1Laboratory of Veterinary Internal Medicine, Department of Veterinary Medicine, Faculty of Agriculture, Yamaguchi University, Yamaguchi, Japan.
The Journal of Veterinary Medical Science
|August 26, 2010
Summary
Prekallikrein (PK) deficiency, a rare canine disorder, was diagnosed in a dog with neurological issues. Genetic analysis revealed a novel point mutation in the PK gene, explaining the deficiency.
Area of Science:
- Veterinary Medicine
- Hematology
- Canine Genetics
Background:
- Prekallikrein (PK) deficiency is an infrequent condition in dogs.
- Affected dogs may present with neurological defects and prolonged activated partial thromboplastin time (aPTT).
Purpose of the Study:
- To identify the genetic basis of Prekallikrein deficiency in a canine case.
- To characterize the molecular defect responsible for PK deficiency in the affected dog.
Main Methods:
- Diagnostic evaluation including aPTT and prothrombin time (PT) assays.
- Comparative sequencing of canine PK cDNA and genomic DNA from the affected dog.
- Utilized human PK-deficient plasma for initial diagnosis.
Main Results:
- The dog exhibited prolonged aPTT and normal PT, consistent with PK deficiency.
- A novel point mutation in exon 8 of the PK gene was identified in the affected dog.
- This mutation results in an amino acid substitution within the fourth apple domain of the PK protein.
Conclusions:
- This study reports the first identified point mutation in the PK gene causing Prekallikrein deficiency in a dog.
- The findings provide a molecular explanation for PK deficiency in this canine case and contribute to understanding canine hematology.
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