OMIA 001428-9615 : Trapped Neutrophil Syndrome in Canis lupus familiaris
[IT thanks DVM students Laura Sweeting and Tracy Yeung, who provided the basis of this contribution in April 2022]Pathology: Hegler et al. (2020) and Mizukami et al. (2013) discuss trapped neutrophil syndrome as a condition characterised by retention of neutrophils in the bone marrow of Border Collies. Whilst understanding of pathophysiological mechanisms is incomplete, neutrophils are seen to move inadequately from their haemopoietic site in bone marrow, to peripheral circulation (Mizukami et al., 2012).
The two major features are reduced circulating neutrophil numbers (peripheral neutropoenia) and intramedullary myeloid hyperplasia (Mason et al., 2014). Eosinophilia, monocytosis, hypercholesterolaemia and nRBC in circulation and non-regenerative anaemia are reported (Mizukami et al., 2013).
Radiographs showed capsular joint swelling and heterogeneous metaphyseal radiolucencies in multiple joints and cytology revealed non-degenerate neutrophilic inflammation in multiple joints (Hegler et al., 2020).
[IT thanks DVM students Laura Sweeting and Tracy Yeung, who provided the basis of this contribution in April 2022]Prevalence: Mizukami et al. (2016) reported the frequency of the 4bp deletion allele as 0.059 in 500 Border collies in Japan. Breed: Border Collie. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|VPS13B||vacuolar protein sorting 13 homolog B (yeast)||Canis lupus familiaris||13||NC_051817.1 (1253509..1988060)||VPS13B||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|478||Border Collie||Trapped Neutrophil Syndrome||VPS13B||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||13||g.1412654_1412657del||c.2893_2896del||p.(V595Ifs)||XM_539102.7; XP_539102.2; published as g.4411950_4411953del GTTT (HM036106.1). BLAST of published sequence (HM036106.1) identified genomic position in CanFam3.1 as g.1412654_1412657del||2011||21605373|
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.
|2021||Soh, P.X.Y., Hsu, W.T., Khatkar, M.S., Williamson, P. :|
|Evaluation of genetic diversity and management of disease in Border Collie dogs. Sci Rep 11:6243, 2021. Pubmed reference: 33737533. DOI: 10.1038/s41598-021-85262-x.|
|2020||Hegler, A.K., Grooters, A.M., Dehghanpir, S.D., Gallaher, R.A., Gaschen, L.E. :|
|Trapped neutrophil syndrome in a Border Collie. J Am Anim Hosp Assoc 56:e56304, 2020. Pubmed reference: 32182118. DOI: 10.5326/JAAHA-MS-6981.|
|2016||Mizukami, K., Yabuki, A., Kohyama, M., Kushida, K., Rahman, M.M., Uddin, M.M., Sawa, M., Yamato, O. :|
|Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016. Pubmed reference: 27387721. DOI: 10.1016/j.tvjl.2016.05.004.|
|2014||Mason, S.L., Jepson, R., Maltman, M., Batchelor, D.J. :|
|Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies. J Small Anim Pract 55:57-60, 2014. Pubmed reference: 24032537. DOI: 10.1111/jsap.12134.|
|2013||Mizukami, K., Yabuki, A., Kawamichi, T., Chang, H.S., Rahman, M.M., Uddin, M.M., Kohyama, M., Yamato, O. :|
|Real-time PCR genotyping assay for canine trapped neutrophil syndrome and high frequency of the mutant allele in Border collies. Vet J 195:260-1, 2013. Pubmed reference: 22795605. DOI: 10.1016/j.tvjl.2012.06.014.|
|2012||Mizukami, K., Shoubudani, T., Nishimoto, S., Kawamura, R., Yabuki, A., Yamato, O. :|
|Trapped neutrophil syndrome in a Border Collie dog: clinical, clinico-pathologic, and molecular findings. J Vet Med Sci 74:797-800, 2012. Pubmed reference: 22240985. DOI: 10.1292/jvms.11-0472.|
|2011||Shearman, JR., Wilton, AN. :|
|A canine model of Cohen syndrome: trapped neutrophil syndrome. BMC Genomics 12:258, 2011. Pubmed reference: 21605373. DOI: 10.1186/1471-2164-12-258.|
|2010||Wouda; R.M., King, T.J., Mackay, B.M. :|
|Long-term management of trapped neutrophil syndrome in two Border Collies. Australian Veterinary Practitioner 40:58-63, 2010.|
|2007||Shearman, JR., Wilton, AN. :|
|Elimination of neutrophil elastase and the genes for [corrected] adaptor protein complex 3 subunits [corrected] as the cause of trapped neutrophil syndrome in Border collies. Anim Genet 38:188-9, 2007. Pubmed reference: 17302793. DOI: 10.1111/j.1365-2052.2007.01565.x.|
|2006||Shearman, JR., Zhang, QY., Wilton, AN. :|
|Exclusion of CXCR4 as the cause of trapped neutrophil syndrome in Border Collies using five microsatellites on canine chromosome 19. Anim Genet 37:89, 2006. Pubmed reference: 16441310. DOI: 10.1111/j.1365-2052.2005.01413.x.|
|1996||Allan, F.J., Thompson, K.G., Jones, B.R., Burbidge, H.M., Mckinley, R.L. :|
|Neutropenia with a probable hereditary basis in Border Collies. New Zealand Veterinary Journal 44:67-72, 1996. Pubmed reference: 16031897. DOI: 10.1080/00480169.1996.35937.|
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