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Grey Collie Syndrome (Cyclic Hematopoiesis) AP3

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Test Overview:

Cyclic Neutropenia is a disease that affects the neutrophils of a dog, which are an integral part of the dog's immune system. Every 10-12 days, the dog will experience a dramatic drop in the number of neutrophils circulating through his blood stream, leaving him extremely susceptible to infections. The dog will often experience diarrhoea, fever, joint pain or other symptoms associated with eye, respiratory, or skin infections. Bleeding episodes can also occur. Unfortunately, most affected dogs will die as puppies, and even with the best care, the dog will not likely live past 2-3 years of age.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Adaptor related protein complex 3 beta 1 subunit (AP3B1) on Chromosome 3

Variant Detected:

Nucleotide Insertion c.2407insA p.Lys802STOP

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

Research Citation(s):

Benson, KF. et al. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase (2003) Nat Genet, 35(1);90-96

Associated Breed(s):

Collie Rough, Collie Smooth, Mixed Breed,

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