Factor XII deficiency

Coagulation factor XII is part of the coagulation cascade. Its deficiency does not cause excessive bleeding but is manifested by an increased activated partial thromboplastin time, an indicator of hemocoagulation function.

The c.1321del mutation in the F12 gene, encoding factor XII, causes a shift in the reading frame and premature inclusion of the stop codon, leading to a lack of factor XII activity. This mutation occurs in the American Shorthair, Balinese, Bengal, Cimmerian, Himalayan, Maine Coon, Manx, Savannah, Siamese, and Highlander, Minuet, Munchkin, Ragdoll, and Tennessee Rex breeds.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected kittens.

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References:

Bender, D.E., Kloos, M.T., Pontius, J.U., Hinsdale, M.E., Bellinger, D.A. : Molecular characterization of cat factor XII gene and identification of a mutation causing factor XII deficiency in a domestic shorthair cat colony. Vet Pathol 52:312-20, 2015. Pubmed reference: 24793828