OMIA:000256-9685 : Cystinuria, type I - A in Felis catus
In other species: dog
Categories: Renal / urinary system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2014
Cross-species summary: The name of this entry has been changed from type A to follow the new expanded classification system for cystinuria suggested by Brons et al. (2013): "type I cystinuria when the disease shows autosomal recessive inheritance, type II when it shows autosomal dominant inheritance, and type III for sex-limited inheritance. . . . Involvement of the SLC3A1 gene is indicated by adding A, and similarly B indicates mutations in SLC7A9".
Molecular basis: Mizukami et al. (2014): a "missense mutation (c.1342C>T) ... [resulting] in a deleterious amino acid substitution (p.Arg448Trp) of a highly conserved arginine residue in the rBAT protein encoded by the SLC3A1 gene".
Clinical features: Cystinuria is a metabolic disease that leads to the formation of cystine crystals and uroliths in the urinary tract due to defective transport of the amino acids cystine, ornithine, lysine and arginine (COLAs) across the renal tubular epithelium (Mizukami et al., 2015). In type I-A cystinuria, the SLC3A1 gene mutation detrimentally affects the function of a transporter protein expressed in the apical membrane of epithelial cells in the proximal tubule and intestine (Mizukami et al., 2015). The formation of cystine crystals and uroliths leads to clinical signs including stranguria, haematuria, dysuria, pollakiuria and potentially lower urinary tract obstruction and renal failure (Mizukami et al., 2015). Mizukami et al. (2015) investigated a single intact male DSH cat with early onset of clinical signs at about 2 months of age. Cystine uroliths were surgically removed at 4 months of age and the cat was euthanized at 6 months of age. It is hypothesised that secondary clinical signs of lethargy, hypersalivation and seizures relate to secondary hyperammonaemia due to impaired intestinal absorption and excessive renal excretion of COLAs (Mizukami et al., 2015). These secondary signs of hyperammonaemia, which can be fatal, can occur before the development of any uroliths (Mizukami et al., 2015). Cystine calculi in cats have only been found in the lower urinary tract (Mizukami et al., 2015). Rodney et al. (2021) report that a Greek cat presenting with cystinuria was homozygous for the variant identified by Mizukami et al. (2015).
IT thanks DVM student James Austen, who provided the basis of this contribution in May 2023.
Breed: Domestic Shorthair.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC3A1||solute carrier family 3 (amino acid transporter heavy chain), member 1||Felis catus||A3||NC_058370.1 (64041123..64078170)||SLC3A1||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|
|141||Domestic Shorthair||Cystinuria, type I - A||SLC3A1||missense||Naturally occurring variant||Felis_catus_9.0||A3||g.66539609C>T||c.1342C>T||p.(R448W)||XM_003983937.5:c.1342C>T; Felis_catus_6.2: g.66470414C>T||2015||25417848||The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Kovaříková, S., Maršálek, P., Vrbová, K. :|
|Cystinuria in dogs and cats: What do we know after almost 200 years? Animals (Basel) 11:2437, 2021. Pubmed reference: 34438894 . DOI: 10.3390/ani11082437.|
|Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770 . DOI: 10.1038/s41598-021-86200-7.|
|2015||Mizukami, K., Raj, K., Giger, U. :|
|Feline cystinuria caused by a missense mutation in the SLC3A1 gene. J Vet Intern Med 29:120-5, 2015. Pubmed reference: 25417848 . DOI: 10.1111/jvim.12501.|
- Created by Frank Nicholas on 04 Aug 2016
- Changed by Frank Nicholas on 04 Aug 2016
- Changed by Imke Tammen2 on 18 May 2023