Factor XI deficiency

Gene: F11

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, F11 gene; c.1546 G>A, p.(Val516Met), exon13, chromosome B1.

Breed: Maine Coon

Medical system: Blood

Age of onset of symptoms: Variable, often after surgery

Factor XI deficiency is an inherited blood disorder that affects the coagulation process. It is caused by a mutation in the F11 gene, leading to a reduction in the quantity or activity of factor XI, a protein involved in the intrinsic branch of blood clot formation. Unlike other coagulation disorders, spontaneous bleeding is rare. However, affected animals may experience prolonged mild to moderate bleeding after surgery, injury or minor trauma. Subcutaneous bleeding, unusual bruising, mucosal bleeding (nosebleeds, gum bleeds) and abnormally slow healing may also be observed. In some cases, internal bleeding may occur, particularly after shock, although this is rare. The severity of symptoms varies considerably from one individual to another, and some animals may be asymptomatic.

Factor XI deficiency has been identified in the Maine Coon cat breed.  A Maine Coon pedigree in the United States was investigated because of prolonged bleeding times within individuals.  Molecular studies of 36 cats from the pedigree revealed a mutation affecting the catalytic domain of the F11 protein, with a carrier frequency of 38.9%.  Additional testing of 263 European Maine Coon cats revealed a carrier frequency of 38.0%, while tests on 100 cats of various other breeds failed to detect the mutation.  Thus the mutation in the F11 gene is restricted to the Maine Coon breed, but is widespread within this breed.  This mutation should be of concern to veterinarians and breeders, and DNA testing should be considered for Maine Coon cats scheduled for surgery.

References:

OMIA link: [0363-9685]

Kuder H, Dickeson SK, Brooks MB, et al. (2022) A common missense variant causing factor XI deficiency and increased bleeding tendency in Maine Coon cats. Genes (Basel) 13:792.  [pm/35627175]

Renné T, Oschatz C, Seifert S, et al. (2009) Factor XI deficiency in animal models. J Thromb Haemost 7 Suppl 1:79-83.  [pm/19630774]

Contributed by: Morgane Langlois and Léa Robidoux, Class of 2029, Faculté de médecine vétérinaire, Université de Montréal.  (Translation DWS)