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Acrodermatitis Enteropathica
| Acronym: | ADE |
| Gene: | SLC39A4 |
| Mutation: | c.1057G>C |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Acrodermatitis Enteropathica (AE) is a genetic disorder of zinc metabolism described in humans and various other animals, including cats. Zinc and its ions are essential for many biological processes and numerous enzymes in different metabolism and catabolism pathways where they acquire zinc as a co-factor for their catalytic mechanism or for stabilizing their structure. Zinc-deficient cats show different clinical manifestations such as severe signs of skin disease, diarrhea, and systemic signs of stunted growth. All signs start to show after just a few weeks of age and if not treated, the disease may end fatally. AE has been first identified in Turkish Van cats and it is caused by a mutation in the SLC39A4 gene encoding for the essential intestinal zinc transporter required for the uptake of dietary zinc.
This type of zinc metabolism disorder in cats is inherited as an autosomal recessive trait meaning both mutated SLC39A4 genes are required for the disease to develop. Cats with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Since the disease may potentially lead to death, early genetic testing is crucial for helping identify cats that carry the gene with the specific mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Kiener, S., Cikota, R., Welle, M., Jagannathan, V., Åhman, S., Leeb, T. (2021). A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica. Genes, 12(9), 1309. https://doi.org/10.3390/genes12091309