OMIA:000593-9685 : Acrodermatitis enteropathica in Felis catus (domestic cat)
Categories: Integument (skin) phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Molecular basis: Kiener et al. (2021): "We sequenced the genome of one affected kitten and compared the data to 54 control genomes. A search for private variants in the two candidate genes for the observed phenotype, MKLN1 and SLC39A4, revealed a single protein-changing variant, SLC39A4:c.1057G>C or p.Gly353Arg. ... The genotypes of the index family showed the expected co-segregation with the phenotype and the mutant allele was absent from 173 unrelated control cats."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Kiener et al. (2021): "In a litter of Turkish Van cats, three out of six kittens developed severe signs of skin disease, diarrhea, and systemic signs of stunted growth at 6 weeks of age. Massive secondary infections of the skin lesions evolved. ... Due to the severity of the clinical signs, one affected kitten died and the other two had to be euthanized."
Pathology: Kiener et al. (2021): Histopathological examinations showed a mild to moderate hyperplastic epidermis, covered by a thick layer of laminar to compact, mostly parakeratotic keratin. The dermis was infiltrated with moderate amounts of lymphocytes and plasma cells."
Turkish Van (Cat) (VBO_0100250).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC39A4||solute carrier family 39 (zinc transporter), member 4||Felis catus||F2||NC_058385.1 (83036935..83032143)||SLC39A4||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1354||Turkish Van (Cat)||Acrodermatitis enteropathica||SLC39A4||missense||Naturally occurring variant||Felis_catus_9.0||F2||g.85320523C>G||c.1057G>C||p.(G353R)||cDNA and protein position based on XM_004000173.3 and XP_004000222.2, respectively||2021||34573291|
Cite this entry
|2021||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. DOI: 10.3390/genes12091309.|
- Created by Imke Tammen2 on 03 Oct 2021