Prekallikrein Deficiency

Gene: KLKB1

Transmission: Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, KLKB1 gene; c.988 T>A, p.(F330I)

Medical system: Blood

Breeds: Cavalier King Charles Spaniel, Chihuahua, Chinese Crested, Havanese, Lhasa Apso, Maltese Terrier, Pomeranian, Pug, Schnauzer - Miniature, Shih Tzu, Siberian Husky, Yorkshire Terrier

References: 

OMIA link: [0819-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Okawa T, Yanase T, Shimokawa Miyama T, et al. (2011) Prekallikrein deficiency in a dog. J Vet Med Sci 73:107-11. [pubmed/20736516]