Lethal Acrodermatitis
Affected Genes: MLKN1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr14:5393364: T>G
Breed: Bull Terrier
Miniature Bull Terrier
General Information: Lethal acrodermatitis (LAD) manifests early in a puppy’s life with signs such as immune dysfunction, persistent diarrhea, and pneumonia, contributing to a failure to thrive compared to healthier littermates. The disease is marked by notable dermatological symptoms including yeast infections, causing redness, scaling, crusting, and painful ulcers primarily on the feet, legs, and muzzle. These symptoms are accompanied by abnormal hair color dilution in pigmented areas and severe malformations like an arched hard palate, which complicates eating and leads to foul breath. As the condition progresses, dogs develop painful and thickened foot pads, deformed toenails, and often succumb to complications from pneumonia or are euthanized due to poor quality of life by two years of age.
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 Lethal crodermatitis (LAD) is conducted through analysis of the MLKN1 gene, identifying carriers or affected individuals. The disorder follows an autosomal recessive inheritance pattern, requiring a dog to inherit two copies of the defective gene—one from each parent—to exhibit symptoms. Carriers, possessing only one copy of the gene, do not show symptoms but can pass the mutation to their offspring. Breeding decisions should be informed by reliable genetic testing to avoid producing affected pups. Each offspring of two carrier parents has a 25% chance of being affected and a 50% chance of being a carrier. To prevent the propagation of this debilitating condition, it is advised not to breed carriers with each other. Dogs that do not carry the mutation have no risk of producing affected offspring, ensuring a healthier future for the breed.
References:
Bauer A, Jagannathan V, Hogler S, Richter B, McEwan NA, Thomas A, Cadieu E, Andre C, Hytonen MK, Lohi H, Welle MM, Roosje P, Mellersh C, Casal ML, Leeb T. MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet. 2018 22;14(3).
Jezyk PF, Haskins ME, Mackay-Smith WE, Patterson DF. Lethal acrodermatitis in Bull Terriers. J Am Vet Med Assoc. 1986 188(8):833-9.