Lethal Acrodermatitis (LAD)
Lethal Acrodermatitis MKLN1 (Bull Terrier Type), Genodermatosis
Lethal Acrodermatitis (LAD) is a severe skin condition affecting Bull Terriers and Miniature Bull Terriers that are caused by reduced zinc absorption and leads to impaired development, immune deficiency, and characteristic skin lesions. These lesions appear as swelling on the muzzle and around the eyes and ears. Dogs affected by this condition will also exhibit hard, cracked, and crusted skin lesions, particularly on their feet and footpads. Symptoms may also include pneumonia and diarrhea. Affected dogs may also show signs of coat color dilution in pigmented skin areas. Symptoms typically appear starting in the first week and puppies can show a slower growth rate and appear weak and inactive. Within one year, affected puppies will also appear about half the weight and size of a healthy dog. The disease can progress quickly with dogs typically not living beyond two years of age.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Lethal Acrodermatitis nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Lethal Acrodermatitis but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Lethal Acrodermatitis which results in a severe skin condition with swelling and cracked skin lesions.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
MKLN1
Chromosome
Ch. 14
Mutation
Chr14:5,731,405T>G Or MKLN1:C.400+3A>C
Publication:
Bauer A, Jagannathan V, Högler S, Richter B, McEwan NA, Thomas A, Cadieu E, André C, Hytönen MK, Lohi H, Welle MM, Roosje P, Mellersh C, Casal ML, Leeb T. MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet. 2018 Mar 22;14(3):e1007264. [PubMed: 29565995]
