Dog Coagulation Factor VII Deficiency (FVII)
Acronym: | FVII |
Gene: | F7 |
Mutation: | c.407G>A |
Inheritance: | Autosomal recessive |
Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dog coagulation factor VII deficiency (cFVII), is the most common autosomal recessive inherited factor deficiency associated with a mild to moderate bleeding tendency. Following vascular injury, canine coagulation factor VII deficiency, in combination with some other factors leads to the generation of thrombin, crucial in the formation of blood cloth that stops bleeding. Although largely an asymptomatic defect, this autosomal recessive hemostatic disorder can lead to excessive bleeding after surgery or trauma, hematoma formation, body cavity bleeding, and persistent uterine and vaginal hemorrhage. Clinical symptoms in canines can be reduced by transfusions with fresh plasma or blood, or administration of recombinant activated human FVII. However, treatments are only a temporary solution, because the half-life of FVII protein is only 3 to 4 h and, in canines, treatment with human proteins raises concern about antibody responses to those proteins, thus potentially limiting further therapy.
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:
Callan, M.B., Aljamali, M.N., Margaritis, P., Griot-Wenk, M.E., Pollak, E.S., Werner, P., Giger, U., and High, K.A. (2006). A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J. Thromb. Haemost. 4, 2616–2622.
Carlstrom, L.P., Jens, J.K., Dobyns, M.E., Passage, M., Dickson, P.I., and Ellinwood, N.M. (2009). Inadvertent Propagation of Factor VII Deficiency in a Canine Mucopolysaccharidosis Type I Research Breeding Colony. Comp Med 59, 378–382.