Canine Scott Syndrome (CSS Dog)
Canine Scott syndrome (CSS - TMEM16F bleeding disorder) is a blood coagulation disorder caused by a platelet procoagulant deficiency. The platelets (thrombocytes), which play an important role in blood coagulation, show a specific impairment, for example of the stimulated prothrombinase activity. Affected dogs show a slightly increased tendency to bleed.
The disease occurs in the German Shepherd Dog. The inheritance is autosomal recessive.
Symptoms
- Slightly increased tendency to bleed after injuries and similar events
- The coagulation parameter serum prothrombin time is altered
General Information
- Canine Scott syndrome (CSS - TMEM16F bleeding disorder) is a blood coagulation disorder caused by a platelet procoagulant deficiency.
- The platelets (thrombocytes), which play an important role in blood coagulation, show a specific impairment, for example of the stimulated prothrombinase activity.
Breeds affected
German Shepherd Dog
Test Information
This mutation test detects a change of a single base pair (g.8912219G>A) in the ANO6gene (also TMEM16F gene).
Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs if both alleles of the gene are affected by the mutation (css/css). Dogs that have only one allele with the causative mutation (N/css) are clinically healthy carriers.
Genotypes:
N/N = genetically normal
The dog has no predisposition for CSS and therefore cannot pass it on to its offspring.
N/css = a carrier
The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.
css/css = affected
The variation is passed on 100% to the offspring.
Recommendations
- Carrier animals can be bred to normal animals (N/css x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
- Mating two carrier animals (N/css x N/css) should be avoided because there is a 25% chance that the offspring will be affected.
- Affected animals (css/css) should be excluded from breeding.
Literature
Brooks, M.B., Catalfamo, J.L., MacNguyen, R., Tim, D., Fancher, S., McCardle, J.A.: A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling.J Thromb Haemost 13:2240-52, 2015. Pubmed reference: 26414452. DOI: 10.1111/jth.13157.
Jandrey, K.E., Norris, J.W., Tucker, M., Brooks, M.B.: Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome).J Vet Intern Med 26:1402-7, 2012. Pubmed reference: 23061683. DOI: 10.1111/j.1939-1676.2012.01012.x.
Further information is available at Online Mendelian Inheritance in Animals.