OMIA 000593-9685 : Acrodermatitis enteropathica in Felis catus

In other species: dog , cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 201100 (trait) , 607059 (gene)

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."

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."

Breed: Turkish Van.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 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

Reference


2021 Kiener, S., Cikota, R., Welle, M., Jagannathan, V., Åhman, S., Leeb, T. :
A Missense Variant in <i>SLC39A4</i> in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica. Genes (Basel) 12:1309, 2021. Pubmed reference: 34573291. DOI: 10.3390/genes12091309.

Edit History


  • Created by Imke Tammen2 on 03 Oct 2021