Scott Syndrome (German Shepherd Type)
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Category: Haemolymphatic - Associated with the blood and lymph
Gene: ANO6
Variant Detected: g.8912219 G>A
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive
Test Overview: A rare defect seen in the platelet procoagulant activity. Clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery.
Research Citation(s): 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. : (2012)
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.
Associated Breed(s):
German Shepherd Dog,
Mixed Breed,
White Swiss Shepherd,
