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Factor XI Deficiency - Kerry Blue Terrier Type
| Acronym: | FXI |
| Gene: | F11 |
| Mutation: | g.44477344_44477343ins. |
| Inheritance: | Possibly dominant with incomplete penetrance |
| 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 dogs. There are numerous inherited bleeding disorders known to affect dogs and all of them show a defect in primary hemostasis, coagulation, or breakdown of clots and are almost always caused by variants in genes interfering with platelet function. This type of coagulation factor deficiency is characterized by mild bleeding, but it may also lead to severe hemorrhage after injury or surgery. Affected dogs also bruise easily, and have frequent nosebleeds and bleeding in gums and joints. This type of clotting disorder has been detected in Kerry Blue Terrier dogs and it is caused by a specific mutation within the F11 gene. F11 encodes factor IX which plays an important role in the coagulation pathway.
This bleeding disorder of factor XI deficiency found in Kerry Blue Terrier dogs is inherited as an autosomal dominant trait with incomplete penetrance. That means dogs with both mutated genes will develop the disease, but dogs that carry just one mutated gene may also develop a milder form of the disease since they have one normal gene. Early genetic testing can help identify affected dogs that carry the 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. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to 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.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Knowler, C., Giger, U., Dodds, W. J., Brooks, M. (1994). Factor XI deficiency in Kerry Blue Terriers. Journal of the American Veterinary Medical Association, 205(11), 1557–1561.
Tcherneva E, Giger U. Molecular Base Of Coagulation Factor XI Deficiency In Kerry Blue Terrier. Bulg. J. Vet. Med., 10, No 4, 247-255.