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 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.
Affected puppies present with strongly wrinkled, thickened, dry, inelastic, scaling skin. The region around the eyes and nose are more strongly affected. In some cases, swelling and wrinkling of the skin around the eyes may impede the puppy from opening its eyes. Wrinkles in the exudative part of the skin promote severe secondary skin infections. Affected puppies may also have a displaced and wrinkled auditory canal.
There is no cure for this condition and affected dogs are treated symptomatically. Affected dogs are often euthanized on welfare ground in the early months of life if clinical signs are severe and quality of life impacted.
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 Ichthyosis mutation can be safely bred with a clear dog with no copies of the Ichthyosis mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Ichthyosis 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 Ichthyosis mutation could develop due to a different genetic or clinical cause.
| Gene | SLC27A4 |
|---|---|
| Variant | G>A |
| Chromosome | 9 |
| Coordinate | 55,168,916 |
All coordinates reference CanFam3.1
Metzger, J., Wöhlke, A., Mischke, R., Hoffmann, A., Hewicker-Trautwein, M., Küch, E. M., … Distl, O. (2015). A novel SLC27A4 splice acceptor site mutation in Great Danes with ichthyosis. PLoS ONE, 10(10), 1–13. View the article
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