OMIA 001428-9615 : Trapped Neutrophil Syndrome in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 216550

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific symbol: TNS

Molecular basis: Starting with a list of candidate genes based on comparative clinical signs in other species (especially humans), Shearman and Wilton (2011) used linkage analysis to eventually narrow the field down to the VPS13B gene. They "sequenced each of the 63 exons of VPS13B in affected and control dogs and found that the causative mutation in Border collies is a 4 bp deletion in exon 19 of the largest transcript that results in premature truncation of the protein."

Prevalence: Mizukami et al. (2016) reported the frequency of the 4bp deletion allele (g.4411950_4411953delGTTT) as 0.059 in 500 Border collies in Japan.

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_006595.3 (1101226..1834933) VPS13B 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
Border Collie Trapped Neutrophil Syndrome VPS13B deletion, small (<=20) g.4411950_4411953delGTTT 2011 21605373

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.
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.
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.
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.
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.

Edit History


  • Created by Frank Nicholas on 30 May 2011
  • Changed by Frank Nicholas on 29 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 18 Oct 2016