OMIA:002023-9685 : Cystinuria, type B in Felis catus
Categories: Renal / urinary system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 220100 (trait) , 604144 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Inheritance: From the limited number of cats available to Mizukami et al. (2016) it was not possible to determine the mode of inheritance. Consequently, it was not possible to classify these cases as either type I (recessive) or type II (dominant). Accordingly, this entry is presently labelled "type B" (indicating SLC7A9 as the mutated gene) in anticipation that in the fullness of time, evidence will become available that will enable all the mutants named in this entry to be classified as I - B or II - B. (With thanks to Keijiro Mizukami and Urs Giger for their advice on this question)
Molecular basis: By sequencing exons and flanking regions of the candidate gene SLC7A9 in affected cats, Mizukami et al. (2016) "revealed 3 unique homozygous SLC7A9 missense variants: one in exon 5 (p.Asp236Asn) from a non-purpose-bred medium-haired cat, one in exon 7 (p.Val294Glu) in a Maine Coon and a Sphinx cat, and one in exon 10 (p.Thr392Met) from a non-purpose-bred long-haired cat. A genotyping assay subsequently identified another cystinuric domestic medium-haired cat that was homozygous for the variant originally identified in the purebred cats [p.Val294Glu]. These missense variants result in deleterious amino acid substitutions of highly conserved residues in the [encoded] bo,+AT protein".
Hilton et al. (2017) reported the p.Val294Glu variant as being likely causal in "a litter of Siamese-crossbred cats in Germany". Noting that this is the fourth breed in which this variant has been detected, Hilton et al. (2017) concluded that this variant is likely to be a widespread cause of this disorder in cats.
Breeds: Domestic Longhair, Maine Coon (Cat) (VBO_0100154), Siamese (Cat) (VBO_0100221), Sphynx (Cat) (VBO_0100230).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC7A9||solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9||Felis catus||E2||NC_058382.1 (20064299..20093712)||SLC7A9||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|
|142||Cystinuria, type B||SLC7A9||missense||Naturally occurring variant||Felis_catus_9.0||E2||g.20218196G>A||c.706G>A||p.(D236N)||2016||27404572||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.|
|143||Maine Coon (Cat) Siamese (Cat) Sphynx (Cat)||Cystinuria, type B||SLC7A9||missense||Naturally occurring variant||Felis_catus_9.0||E2||g.20219555T>A||c.881T>A||p.(V294E)||2016||27404572||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.|
|144||Cystinuria, type B||SLC7A9||missense||Naturally occurring variant||Felis_catus_9.0||E2||g.20228722C>T||c.1175C>T||p.(T392M)||2016||27404572||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.|
|2017||Hilton, S., Mizukami, K., Giger, U. :|
|[Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany]. Tierarztl Prax Ausg K Kleintiere Heimtiere 45:265-272, 2017. Pubmed reference: 28585658 . DOI: 10.15654/TPK-160975.|
|2016||Mizukami, K., Raj, K., Osborne, C., Giger, U. :|
|Cystinuria associated with different SLC7A9 gene variants in the cat. PLoS One 11:e0159247, 2016. Pubmed reference: 27404572 . DOI: 10.1371/journal.pone.0159247.|
- Created by Frank Nicholas on 05 Aug 2016
- Changed by Frank Nicholas on 05 Aug 2016
- Changed by Frank Nicholas on 01 Sep 2017
- Changed by Imke Tammen2 on 31 Mar 2022