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Factor XII Deficiency
| Acronym: | FXIID |
| Gene: | F12 |
| Mutation: | c.1321delC |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Factor XII Deficiency also known as Hageman Factor Deficiency is a genetic coagulation factor disorder in humans and various animal species including cats. Autoactivation of Factor XII is the initial step for coagulation induction meaning FXII acts as the initiator of the intrinsic coagulation pathway and may also be important in cardiovascular and inflammatory diseases. Factor XII is primarily produced in the liver and circulates in the plasma as an inactive precursor enzyme and then it undergoes autoactivation to its active form, factor XIIa or the serine protease, after binding to surfaces. The type of Factor XII deficiency found in cats is caused by a single base pair deletion within the F12 gene that encodes FXII which results in the loss of its enzymatic activity. Affected cats usually show prolonged clotting time, but with no signs of abnormal bleeding.
This coagulation factor disorder that can be found in cats is inherited as an autosomal recessive trait meaning both mutated F12 genes are required for the disease to develop. Cats with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early genetic testing can help identify cats that carry the gene with the specific mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Bender, D. E., Kloos, M. T., Pontius, J. U., Hinsdale, M. E., Bellinger, D. A. (2015). Molecular characterization of cat factor XII gene and identification of a mutation causing factor XII deficiency in a domestic shorthair cat colony. Veterinary pathology, 52(2), 312–320. https://doi.org/10.1177/0300985814532821
Maruyama, H., Hosoe, H., Nagamatsu, K., Kano, R., Kamata, H. (2017). A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. The Journal of veterinary medical science, 79(5), 822–826. https://doi.org/10.1292/jvms.16-0602
Maruyama, H., Brooks, M. B., Stablein, A., Frye, A. (2019). Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. Gene, 706, 6–12. https://doi.org/10.1016/j.gene.2019.04.053