OMIA 002023-9685 : Cystinuria, type B in Felis catus

See the equivalent entry at NCBI

Possible human homologue (MIM number): 220100

Mendelian trait/disorder: yes

Considered a defect: yes

Key mutation known: yes

Year key mutation 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, Siamese, Sphinx.

Associated gene:

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_018737.3 (20214089..20241798) SLC7A9 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Maine Coon Siamese Sphinx Cystinuria, type B SLC7A9 missense Felis_catus_6.2 E2 g.19520350G>A c.706G>A p.D236N 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Maine Coon Cystinuria, type B SLC7A9 missense Felis_catus_6.2 E2 g.19521709C>T c.881T>A p.V294E 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Cystinuria, type B SLC7A9 missense Felis_catus_6.2 E2 g.19530911C>T c.1175C>T p.T392M 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


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.
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.

Edit History


  • Created by Frank Nicholas on 05 Aug 2016
  • Changed by Frank Nicholas on 05 Aug 2016
  • Changed by Frank Nicholas on 01 Sep 2017