Clinical signs become apparent at 2–12 weeks of age. Clinical signs include stunted growth, splayed digits, eating difficulties, inflammatory rash, general failure to thrive, skin disease (normally present over the muzzle, bridge of the nose, feet, elbows, and hocks), diarrhea, increased risk of microbial infections (especially bronchopneumonia), behavioral abnormalities, nail disease (paronychia), hyperkeratosis (thickening of the skin) of footpads. Dogs with this disease have dramatically shortened life expectancies and generally live for only two years.
Histopathologic changes consist of severe and diffuse parakeratotic hyperkeratosis with epidermal hyperplasia.
MKLN1 and XM_005628367.3:c.400+3A>C
Explanation of Results
|2-2 (Homozygous Disease Variant)
||Homozygous Affecteds (2-2) are expected to develop signs consistent with Lethal Acrodermatitis and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
||Heterozygous Carriers (1-2) are not expected to develop signs of Lethal Acrodermatitis but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
|1-1 (Homozygous Normal)
||Healthy (Normal, Clear)
||Homozygous Normals (1-1) are not expected to develop signs of Lethal Acrodermatitis and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.
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. doi: 10.1371/journal.pgen.1007264. PMID: 29565995; PMCID: PMC5863938.
Jezyk PF, Haskins ME, MacKay-Smith WE, Patterson DF. Lethal acrodermatitis in bull terriers. J Am Vet Med Assoc. 1986 Apr 15;188(8):833-9. PMID: 3710872.