Trapped Neutrophil Syndrome (Border Collie Type)

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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,