Hereditary Footpad Hyperkeratosis (Rottweiler Type)
Affected Genes: DSG1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr7:57600651-57600655: 5 bp deletion AGCCC
Breed: Rottweiler
General Information: Hereditary Footpad Hyperkeratosis (Rottweiler Type) is an inherited disorder in Rottweilers, typically presenting between 2 to 6 months of age with hard, thickened footpads. Over time, these footpads may develop deep cracks, leading to infections, pain, and lameness. Affected dogs may also be prone to ear infections and have itchy, thickened skin. Management includes regular footpad trimmings and treatment for skin 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 DSG1 gene can identify carriers of Hereditary Footpad Hyperkeratosis (Rottweiler Type), an autosomal recessive disorder. Dogs must inherit two copies of the mutated gene to develop the disease, while carriers typically show no symptoms. Breeding two carriers can result in pups with a 25% chance of having the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for responsible breeding practices, and it is recommended to avoid breeding known carriers together. Dogs without the mutation have no increased risk of producing affected pups.
References:
Backel KA, Kiener S, Jagannathan V, Casal ML, Leeb T, Mauldin EA. A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. Genes (Basel) 2020 Apr 24;11(4):469.