Epidermolysis bullosa simplex (Cardigan Welsh Corgi)
Affected Genes: KRT5
Inheritance: Autosomal Dominant Inheritance
Variant(canFam6): chr27:43682651
Breed: Cardigan Welsh Corgi
General Information: Epidermolysis Bullosa Simplex (Split Paw Pad Disease) is an inherited skin disorder in Cardigan Welsh Corgis caused by a mutation in the KRT5 gene. This condition affects the structural integrity of the skin, leading to fragile paw pads that can split or blister easily. Dogs with one copy of the mutated gene are predisposed to this condition, as it is inherited in an Autosomal Dominant manner, meaning that only one copy of the mutated gene from either parent is required for the dog to be affected.
Symptoms typically include blistering or splitting of the paw pads, particularly after exercise or walking on rough surfaces. In more severe cases, dogs may experience painful sores and secondary infections due to the skin damage. While the condition affects the quality of life, it is generally manageable with careful foot care, avoiding rough surfaces, and treating any infections promptly.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Likely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the KRT5 gene variant can determine whether a Cardigan Welsh Corgi is at risk of developing Epidermolysis Bullosa Simplex (Split Paw Pad Disease). This disorder is inherited in an Autosomal Dominant manner, meaning that a dog only needs to inherit one copy of the mutated gene to be affected.
Dogs with one copy of the mutation are likely to develop symptoms, while those with no copies of the mutation will not be affected and cannot pass the condition on to their offspring. Genetic testing is essential for breeding practices, as breeding an affected dog with a dog free of the mutation will still result in a 50% chance of producing affected offspring.
References:
Kiener S, Mauldin EA, Jagannathan V, Casal ML, Leeb T. KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex. Anim Genet. 2022 53(6):892-896