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Feline Factor XI Deficiency
| Acronym: | FXI |
| Gene: | F11 |
| Mutation: | ChrB1:17127925G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Factor XI Deficiency is a genetic coagulation factor disorder in humans and various animal species including cats. There are a few bleeding disorders known to affect cats and even though they are usually specific to a certain breed, all of them show a defect in coagulation or breakdown of cloths and are almost always caused by variants in genes interfering with platelet function. This type of coagulation factor deficiency can be found in Maine Coon cats (MCCs) and it is characterized by mild bleeding that may also lead to severe hemorrhage after injury or surgery. FXI disorder is caused by a specific mutation within the F11 gene that encodes factor IX. Factor IX is an inactive form of serine protease found in the blood of mammals with an important role in the coagulation pathway.
This bleeding disorder that can be found in cats is inherited as an autosomal recessive trait meaning both mutated F11 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:
Kuder, H., Dickeson, S. K., Brooks, M. B., Kehl, A., Müller, E., Gailani, D., Giger, U. (2022). A Common Missense Variant Causing Factor XI Deficiency and Increased Bleeding Tendency in Maine Coon Cats. Genes, 13(5), 792. https://doi.org/10.3390/genes13050792
Troxel, M. T., Brooks, M. B., Esterline, M. L. (2002). Congenital factor XI deficiency in a domestic shorthair cat. Journal of the American Animal Hospital Association, 38(6), 549–553. https://doi.org/10.5326/0380549