Lethal Acrodermatitis MKLN1 (Bull Terrier Type) Overview
Lethal Acrodermatitis MKLN1 (Bull Terrier Type)
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Category: Dermatologic - Associated with the skin
Variant Detected: c.400 + 3A> C
Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.
Mode of Inheritance: Autosomal Recessive
Test Overview: Lethal Acrodermatitis (LAD) is a genodermatosis i.e. a serious inherited skin condition of Bull Terriers and Miniature Bull Terriers. It is a complex immune deficiency that is caused by defective zinc metabolic pathway or zinc absorption. The disease is characterized by severe retardation of growth and development, immune deficiency and characteristic skin lesions. Unpleasant lesions and swelling appear especially on the muzzle, around the eyes and ears. The skin on the feet is hard and cracked and crusted skin lesions and cracks develop on the footpads. The disease is often accompanied with diarrhoea and pneumonia. The LAD affected dogs show signs of coat colour dilution in pigmented skin areas. The clinical signs of LAD appear after the first week from the birth of the puppies. The puppies affected by mutation grow slower, are weaker and less active and by one year of age their weight and size is half the weight and size of a healthy dog. The affected dogs usually die before they reach two years of age and that due to infection (in case of bronchopneumonia) or they are euthanized because of severe and painful lesions on the feet.
Research Citation(s): Bauer A, Jagannathan V, Högler S, Richter B, McEwan NA, Thomas A, et al. (2018) MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet 14(3): e1007264.