Factor VII Deficiency

Gene: F7

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, F7 gene; c.407 G>A, p.(G136E), exon 5

Medical system: Blood

Breeds: Airedale Terrier, Alaskan Klee Kai, Alaskan Malamute, Alaskan Sled Dog, American Cocker Spaniel, American Eskimo Dog, American Foxhound, American Staffordshire Terrier/Amstaff, Australian Shepherd, Basset Hound, Beagle, Bluetick Coonhound, Catahoula Leopard Dog, Cavalier King Charles Spaniel, Chihuahua, Chow Chow, Dachshund Miniature Longhair/Shorthair, Dalmatian, Doberman Pinscher, English Bulldog, English Springer Spaniel, Finnish Hound, German Shorthaired Pointer, Golden Retriever, Great Pyrenees, Italian Greyhound, Japanese Spitz, Labrador Retriever, Lacy Dog, Papillon / Continental Toy Spaniel, Pomeranian, Poodle - Miniature (Dwarf), Poodle - Toy, Pug, Redbone Coonhound, Schnauzer - Giant, Schnauzer - Miniature, Scottish Deerhound, Sealyham Terrier, Treeing Walker Coonhound, Vizsla, Welsh Springer Spaniel

Age of onset of symptoms: Clinical signs are most often seen after a trauma or a surgical intervention.

Factor VII is an important blood protein in the extrinsic coagulation pathway. Factor VII deficiency is a genetic disorder that causes mild to moderate bleeding.  Clinical signs occur after trauma or medical events such as surgery or welping, and include prolonged bleeding or excessive bruising.  Often the condition is diagnosed by prolonged prothrombin times seen during routine coagulation tests prior to a  medical intervention.  Although the mutation responsible for Factor VII deficiency is found in a number of dog breeds, apart from rare exceptions, most dogs affected by this condition lead relatively normal lives.

References:

OMIA link: [0361-9615]

Court MH, Kiser JN, Neibergs, HL, et al. (2023) Identification by whole genome sequencing of genes associated with delayed postoperative hemorrhage in Scottish deerhounds. J Vet Intern Med 37(2):510-517.  [pubmed/36780177]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Clark JA, Hooser SB, Dreger DL, et al. (2022) Investigation of a common canine factor VII deficiency variant in dogs with unexplained bleeding on autopsy. J Vet Diagn Invest 34:806-812.  [pubmed/35949113]

Ramirez CJ, Krug M, Zahand A, et al. (2019) Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing. J Vet Diagn Invest 31:276-279. [pubmed/30661469]

Carlstrom LP, Jens JK, Dobyns ME, et al. (2009) Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med.; 59(4):378-82. [pubmed/19712579]

Callan MB, Aljamali MN, Margaritis P, et al. (2006) A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost.; 4(12):2616-22. [pubmed/16961583]

Contributed by: Marie-Pier Gendron and Savannah Campbell, class of 2027, Veterinary Medicine Faculty, University of Montreal.  (Translation: DWS).