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Trapped Neutrophil Syndrome (Border Collie Type)
Test Overview:
This is an autosomal recessive disease of Border Collies that appears to have been present in the breed for a very long time, and occurs across all lines. It is an immune defect where neutrophils are produced by the bone marrow, but there is a defect that prevents their release into the bloodstream. This results in a susceptibility to infection and tendency to ill-thrift and repeated infections. Some pups are small and fine-boned in appearance, while others appear normal. Pups will often react badly to vaccination, developing severe fever and illness. Most affected animals die or are euthanised by the age of 6 months. Affected animals are diagnosed by having a low neutrophil count on blood tests, but plentiful neutrophils on bone marrow biopsy. A DNA test is now available so that breeding animals may be tested and carrier animals detected. It is estimated that 10 – 15% of the Border collie population are carriers for trapped neutrophil syndrome. There is no cure for this disease.
Category:
Immunologic - Associated with the organs and cells of the immune system
Gene:
Vacuolar protein sorting 13 homolog B (VPS13B) on Chromosome 13
Variant Detected:
Nucleotide Deletion CanFam 2.1 (g.4411956_4411960delGTTT)
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Recommended Screening:
1. DNA screening of all breeding animals prior to breeding (e.g. at 1 year of age).
Research Citation(s):
Shearman, JR. et al. A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. (2011) BMC Genomics 12;258.
Associated Breed(s):
Border Collie, Koolie , Mixed Breed,
