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Congenital Cornification Disorder II (Discovered in Chihuahuas)

Affected Genes: NSDHL

Inheritance: Autosomal Recessive

Variant(canFam6):
chrX:106120743-106120747 5 bp deletion GAACA

Breed: Chihuahua

General Information: Congenital Cornification Disorder (Discovered in the Chihuahua) is an inherited skin disorder characterized by the abnormal development of the skin’s outer layer, leading to excessive scaling, thickening, and flaking. This condition results from a genetic mutation affecting the normal process of skin cell turnover. Dogs with two copies of the associated mutation are predisposed to Congenital Cornification Disorder, which can manifest shortly after birth. Symptoms include dry, scaly skin, thickened paw pads, and frequent skin infections due to compromised skin barrier function. While not all dogs with the mutation will show severe symptoms, they often require lifelong management with specialized skin care routines, including medicated shampoos and moisturizers, 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 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.

References:
Christen M, Austel M, Banovic F, Jagannathan V, and Leeb T. NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi. Genes (Basel) 2020 11(11):1297.