OMIA 001353-9615 : Scott Syndrome in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 262890

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Species-specific name: Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X

Species-specific symbol: CSS

History: This disorder was first documented in dogs by Brooks et al. (2002).

Inheritance: Autosomal recessive inheritance was indicated by the segregation analysis of Brooks et al. (2010).

Mapping: Using linkage analysis of data collected from a genome scan with 280 microsatellites genotyped on 28 affected and 27 control German shepherd dogs, Brooks et al. (2010) mapped this disorder to near the centromere of chromosme CFA27.

Molecular basis: Brooks et al. (2015) reported that the likely causal variant for this disorder in German shepherd dogs is a splice-site mutation g.8912219 G>A in the TMEM16F gene (also known as ANO6).

Clinical features: 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".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ANO6 anoctamin 6 Canis lupus familiaris 27 NC_006609.3 (9067057..8882691) ANO6 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
German Shepherd Dog Platelet receptor for factor X, deficiency of ANO6 splicing CanFam3.1 27 g.8912219 G>A 2015 26414452 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2015 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.
2012 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.
2010 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 450:70-5, 2010. Pubmed reference: 19854246. DOI: 10.1016/j.gene.2009.09.016.
2009 Brooks, MB., Randolph, J., Warner, K., Center, S. :
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. Vet Clin Pathol 38:306-15, 2009. Pubmed reference: 19351331. DOI: 10.1111/j.1939-165X.2009.00141.x.
2008 Brooks, MB., Catalfamo, JL., Etter, K., Brisbin, A., Bustamante, CD. :
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. J Thromb Haemost 6:1608-10, 2008. Pubmed reference: 15761668. DOI: 10.1007/s00018-005-4527-3.
2007 Brooks, MB., Catalfamo, JL., Friese, P., Dale, GL. :
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. J Thromb Haemost 5:1972-4, 2007. Pubmed reference: 17723137. DOI: 10.1111/j.1538-7836.2007.02683.x.
2002 Brooks, M.B., Catalfamo, J.L., Brown, H.A., Ivanova, P., Lovaglio, J. :
A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity Blood 99:2434-2441, 2002. Pubmed reference: 11895776.

Edit History


  • Created by Frank Nicholas on 03 Nov 2010
  • Changed by Frank Nicholas on 30 Oct 2012
  • Changed by Frank Nicholas on 23 Apr 2013
  • Changed by Frank Nicholas on 21 May 2013
  • Changed by Frank Nicholas on 08 Nov 2016