Trapped Neutrophil Syndrome
Affected Genes: VPS13B
Inheritance: Autosomal Recessive
Variant(canFam6):
chr13:1408281-1408284: 4 bp deletion GTTT
Breed: Australian Koolie
Australian Working Kelpie
Border Collie
Bordoodle
Koolie
General Information: Trapped Neutrophil Syndrome (TNS) is a hereditary condition affecting Border Collies that severely compromises their immune system, reducing their ability to combat infections. Typically presenting between the ages of 6 to 12 weeks, affected puppies exhibit symptoms depending on the specific infection they are fighting, which may include poor growth, weight loss, lethargy, and gastrointestinal issues like diarrhea and vomiting. These dogs may also show signs of respiratory, skin, eye, or ear infections and often appear smaller and less developed compared to their healthy littermates. Affected dogs can also have a distinct narrow, elongated head shape resembling a ferret. While some dogs with TNS may show symptoms as late as 1 to 2 years of age, most succumb to infections by four months old if not promptly treated.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the VPS13B gene is essential for identifying carriers of the Trapped Neutrophil Syndrome (TNS) mutation in Border Collies. TNS is inherited in an autosomal recessive manner, requiring a dog to inherit two copies of the mutated gene, one from each parent, to manifest the disease. Carrier dogs, possessing only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of developing TNS and a 50% chance of being a carrier. Accurate genetic testing is crucial for responsible breeding practices to avoid pairing two carriers, thereby reducing the risk of producing affected puppies. By ensuring only non-carrier dogs are bred, breeders can help eliminate this serious condition from Border Collie lines, ensuring healthier future generations.
References:
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. 2012 74(6):797-800.
Shearman JR, Wilton AN. A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. BMC Genomics. 2011 12:258.