Scott Syndrome
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Scott Syndrome
OMIA
1353
Gene Name
ANO6
Gene Name 2
CanFam3.1, Chr. 27
Mutation
g.8912219 G>A
Mutation 2
c.1934+1G>A
Mutation 3
g.8912219C>T
Test Type
Genetic Disease/Disorder
Details
Scott syndrome is a rare bleeding disorder associated with an inability of stimulated platelets to externalize the negatively charged phospholipid, phosphatidylserine. (Brooks et al, 2010)
Details 2
As summarised by Brooks et al. (2010), the main features of this disorder are "platelets with normal aggregation and secretion, yet specific impairment of stimulated prothrombinase activity, PS externalization, and microvesiculation". (From OMIA)
Published
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.
Published 2
Brooks M, Etter K, Catalfamo J, Brisbin A, Bustamante C, Mezey J. A Genome-wide Linkage Scan in German Shepherd Dogs Localizes Canine Platelet Procoagulant Deficiency (Scott Syndrome) to Canine Chromosome 27. Gene. 2010;450(1-2):70-75. doi:10.1016/j.gene.2009.09.016.
Body/System/Process
Blood
OMIA Url
Inheritance
AR
