Juvenile onset
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Clinical signs of TNS include an exceptional susceptibility to infections secondary to the low number of circulating neutrophils in the blood stream. Affected dogs also tend to suffer from chronic inflammatory conditions such as arthritis. Clinical signs are usually observed by 6 to 12 weeks of age and can include a smaller overall size as well as a ferret-like face due to abnormal craniofacial development leading to a narrowed, elongated skull shape. For some affected dogs, clinical signs can be mild and go unnoticed until adulthood. Nevertheless, TNS is a severe disease and affected dogs have a shorter life expectancy.
Therapy is limited to symptomatic treatments for resulting infections and general supportive care. There is no cure.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the TNS mutation can be safely bred with a clear dog with no copies of the TNS mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the TNS mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the TNS mutation could develop due to a different genetic or clinical cause.
Gene | VPS13B |
---|---|
Variant | Deletion |
Chromosome | 13 |
Coordinate Start | 1,412,654 |
Coordinate End | 1,412,657 |
All coordinates reference CanFam3.1
Shearman, J. R., & Wilton, A. N. (2011). A canine model of cohen syndrome: Trapped neutrophil syndrome. BMC Genomics, 12(1), 258. View the article