Focal Non-Epidermolytic Palmoplantar Keratoderma
Affected Genes: KRT16
Inheritance: Autosomal recessive
Variant(canFam6):
chr9:20631512: deletion GT insertion CGGA
Breed:
General Information: Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK) is an inherited disorder in dogs characterized by the development of thickened, hardened skin on the paw pads. This condition can lead to discomfort, pain, and difficulty walking due to the formation of calluses and cracks in the affected areas. Symptoms typically begin in young dogs and may progress with age. The severity of the condition can vary, with some dogs experiencing mild symptoms and others suffering from more severe complications. While there is no cure for FNEPPK, treatment focuses on managing symptoms through regular trimming of the affected areas, moisturizing the paw pads, and providing pain relief as necessary.
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 for Focal Non-Epidermolytic Palmoplantar Keratoderma involves screening for specific mutations in the genes associated with this condition. FNEPPK is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Dogs with only one copy of the mutation are carriers and typically do not show any symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected by FNEPPK, a 50% chance of being a carrier, and a 25% chance of being completely unaffected. Reliable genetic testing is crucial for identifying carriers and making informed breeding decisions to reduce the incidence of this disease in the breed. Avoiding the breeding of two carriers together can help prevent the birth of affected puppies and improve the overall health of the breed.
References:
Plassais J, Guaguère E, Lagoutte L, Guillory AS, Dufaure de Citres C, Degorce-Rubiales F, Delverdier M, Vaysse A, Quignon P, Bleuart C, Hitte C, Fautrel A, Kaerle C, Bellaud P, Bensignor E, Queney G, Bourrat E, Thomas A, and André C. A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). J Invest Dermatol. 2015 135(4):1187-1190.