First genetically confirmed case of Lethal Acrodermatitis in a Bull Terrier in Türkiye

Abstract

Lethal acrodermatitis (LAD) is a rare disease affecting bull terriers and miniature bull terriers characterized by poor growth, progressive skin lesions, and immunodeficiency. A mutation in the Muskelin 1 (MKLN1) gene was determined as the causative mutation for LAD, and a genetic testing method for affected dogs has been established. A bull terrier representing symptoms similar to those of LAD was submitted to clinics, and a blood sample was taken for genetic testing. DNA was extracted, and direct mutation screening confirmed the causative mutation MKLN1:c.400+3A>C. Due to the severe progression of the disease and lack of available treatment, we have been informed that the patient was euthanised. This is the first reported case of LAD from Turkiye, and based on our findings, we strongly suggest that owners and breeders implement genetic testing before breeding to reduce and eventually eradicate this mutation from the population.

Keywords

• Autosomal Recessive Disease
• Dog
• Inherited Disease
• MKLN1 Gene
• Mutation

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