Present at birth
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 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.
The disorder causes multiple skeletal anomalies that are already evident in young puppies. A severe underbite is often the first sign of the disorder. Another characteristic feature of the disorder is severe patellar luxation. Patellar luxation causes alteration in gait, hind-limb-lameness, and "bouncing” of the affected leg. Bilateral patellar luxation can sometimes only be seen as an abnormal gait or a reluctance to move, jump, or climb stairs. The disorder can also cause many other skeletal changes, such as elbow luxation, abnormal structure of the nasal septum, rib changes, spinal changes, and abnormal bone mineralization and ossification. Affected dogs can also have abnormally small eyes and thin sclera. Affected dogs are treated according to their condition and the severity of symptoms. Surgical correction of some of the skeletal abnormalities could reduce the degree of discomfort an affected dog experiences but there is no curative treatment for the disorder.
On presentation clinical signs of this disease, a full assessment of the skeletal features should be performed. Surgical correction of some of the bone structures may be possible to improve the body’s biomechanics. Arthritis secondary to altered biomechanics later in life is a possibility.
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 develop. A carrier dog with one copy of the VDEGS mutation can be safely bred with a clear dog with no copies of the VDEGS mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the VDEGS 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 VDEGS mutation could develop due to a different genetic or clinical cause.
| Gene | SCARF2 |
|---|---|
| Variant | Deletion |
| Chromosome | 26 |
| Coordinate Start | 30,237,714 |
| Coordinate End | 30,237,715 |
All coordinates reference CanFam3.1
Hytönen, M. K., Arumilli, M., Lappalainen, A. K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., … Lohi, H. (2016). Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genetics, 12(5), 1–20. View the article
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