Congenital Cornification Disorder (Golden Retriever Type)

General Information: Congenital Cornification Disorder (Golden Retriever Type) is an inherited skin disorder in dogs where a genetic mutation leads to abnormal skin cell turnover, resulting in excessive scaling, thickening, and flaking of the skin. Dogs with two copies of the associated gene mutation are predisposed to this condition, which can manifest shortly after birth or during early puppyhood. Symptoms include dry, scaly skin, thickened paw pads, and a predisposition to skin infections due to the compromised skin barrier. The condition can cause discomfort and itching, impacting the dog’s quality of life. While not all dogs with the mutation will show severe symptoms, lifelong management with specialized skin care routines, including medicated shampoos and moisturizers, is often required to maintain skin health and prevent infections.

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 of the specific gene associated with Congenital Cornification Disorder (Golden Retriever Type) can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.