Acrodermatitis Enteropathica in the Turkish Van

Acrodermatitis Enteropathica is an inherited disease characterized by severe signs of rapidly progressive skin disease such as scaling, hair loss and the formation of lesions and skin inflammation. Secondary infections of the skin lesions evolve as well. The disease is further manifested by growth retardation and diarrhoea. Clinical signs are already evident in kittens before weaning and are very severe, often fatal.

The disease is caused by a missense mutation c.1057G>C in the SLC39A4 gene, which encodes an important zinc transporter.

Inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. If two heterozygous individuals are combined, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to avoid unintentional breeding of affected individuals.

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References:

Kiener, S., Cikota, R., Welle, M., Jagannathan, V., Åhman, S., Leeb, T. : A missense variant in SLC39A4 in a litter of Turkish Van cats with acrodermatitis enteropathica. Genes (Basel) 12:1309, 2021. Pubmed reference: 34573291.