Juvenile onset
For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder 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.
Darier Disease is a dermatologic disorder and, in the Irish Terrier, has been characterized by two types of lesions, infundibular cysts and ulcerative plaques. Infundibular cysts may be multifocal and lined with abnormal skin cells, with ulcerative skin plaques potentially forming over the cysts. The plaques may be moderately painful, pruritic and also appear crusted. Both lesion types can present anywhere in the skin, including the ear canals. Clinical signs in affected dogs tend to show by 4 to 6 months of age, and the dogs should be monitored for recurrence as new lesions can develop with time.
Treatment will be dependent on the nature of the affected dog’s lesions. Therapy for secondary skin infections may be warranted with ulcerative plaques. Surgical removal of cystic nodules appears to be curative with no recurrence at the site of removal. In areas such as the ear canal, repeated diode laser ablation of the affected skin can be successful in resolving lesions. Routine monitoring is recommended as new nodules may develop in other areas of skin on the body.
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 disorder is autosomal dominant, meaning dogs with one or two copies of the Darier Disease (Discovered in the Irish Terrier) variant are at an elevated risk for being diagnosed with this condition. Use of dogs with one or two copies of the Darier Disease (Discovered in the Irish Terrier) variant are not recommended for breeding, as there is a risk that the resulting litter will contain affected puppies. For example, if a dog with one copy of the Darier Disease (Discovered in the Irish Terrier) variant is bred with a clear dog with no copies of the Darier Disease (Discovered in the Irish Terrier) variant, about half of the puppies will have one copy and half will have no copies of the variant. Please note: It is possible that clinical signs similar to the ones associated with this Darier Disease variant could develop due to a different genetic or clinical cause.
| Gene | ATP2A2 |
|---|---|
| Variant | Insertion |
| Chromosome | 26 |
| Coordinate Start | 8,200,944 |
| Coordinate End | 8,200,945 |
All coordinates reference CanFam3.1
Linek, M., Doelle, M., Leeb, T., Bauer, A., Leuthard, F., Henkel, J., … Welle, M. M. (2020). ATP2A2 SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation. Genes (Basel), 11(5), 481. View the article
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