01746-A: Discovery of the Genetic Cause of Lethal Acrodermatitis

Grant Status: Closed

Grant Amount: $12,960
Margret L Casal, DVM, PhD; Trustees of the University of Pennsylvania
June 1, 2013 - May 31, 2014

Sponsor(s): Bull Terrier Club of America, Miniature Bull Terrier Club of America

Breed(s): Bull Terrier
Research Program Area: Dermatology and Allergic Disease
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Lethal acrodermatitis (LAD) is a rare but significant disease of bull terrier dogs in the United States, Canada, and Europe. Affected dogs present with a highly arched palate and inflamed footpads that cause constant pain and predispose dogs to secondary illness. Earlier studies suggested that this disease is caused by a defect in zinc transport/metabolism but subsequent studies failed to replicate those results. Dr. Casal's laboratory, in collaboration with Dr. Catherine André's laboratory, have sequenced almost all of the genes currently known to participate in zinc metabolism but have not yet found a mutation. Drs. Casal and André will conduct a genome wide association study to identify the gene(s) involved with this disease. Their goal is to develop a DNA test to assist breeders in identifying carriers of LAD to plan future breeding and also allow identification of a novel gene for a rare form of human acrodermatitis.


Bauer, A., Jagannathan, V., Högler, S., Richter, B., McEwan, N. A., Thomas, A., … Leeb, T. (2018). MKLN1 splicing defect in dogs with lethal acrodermatitis. PLOS Genetics, 14(3), e1007264. https://doi.org/10.1371/journal.pgen.1007264

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