OMIA:001071-9685 : Wilson disease in Felis catus |
In other species: dog , pig , taurine cattle , sheep
Categories: Liver/biliary system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 277900 (trait) , 606882 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Cross-species summary: A disorder of copper metabolism, due to a deficiency of ceruloplasmin, which forms a complex with copper. The excess copper is deposited in the brain (causing mental retardation) or the liver (causing jaundice and cirrhosis).
Molecular basis: Noting the similarity of the clinical signs of a single "crossbred" cat (described in Clinical features section) to Wilson disease in humans, Asada et al. (2019) sequenced comparative functional genes in the affected cat and identified the variant c.3890C>G (p. T1297R) of the ATP7B gene as being likely causal. The authors reported that "the patient and its littermate had a single‐nucleotide variation (SNV, p. T1297R) that impaired the function of the ATP7B gene product; the gene that is mutated in patients with Wilson's disease (WD). Hepatic copper accumulation was believed to be associated with the SNV of the ATP7B gene, and the patient had a genetic disorder of copper metabolism equivalent to WD in humans."
Asada et al. identified a second likely causal variant ATP7B in 2020: "Upon sequence analysis of genomic DNA samples obtained from the five cats with HCA [hepatic copper accumulation] ... p.T1297R and p.P550L were predicted to have high functional effects. The latter was common in two cats (cases 2 and 4). All SNVs identified herein were homozygous. The region containing p.T1297R was within the copper-transporting P-type ATPase domain and that containing p.P550L was within the copper-binding domain."
Clinical features: Asada et al. (2019): "A 9‐month‐old intact crossbred female cat was presented with jaundice, intermittent anorexia and lethargy, increased hepatic enzyme activities, and hyperammonemia. Abdominal ultrasound and computed tomographic examinations determined that the liver had a rounded and irregular margin, and histopathological examination identified excessive accumulation of copper hepatocytes in the liver. Concentrations of both blood and urine copper were higher than in healthy cats."
Prevalence: In a survey of 54 cats for whom "intraoperative liver tissue specimens" were available, Asada et al. (2020) reported 4 with "hepatic copper accumulation (HCA)", three of which had "single-nucleotide variations in ATP7B".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ATP7B | ATPase, Cu++ transporting, beta polypeptide | Felis catus | A1 | NC_058368.1 (19504571..19582654) | ATP7B | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1347 | Wilson disease | ATP7B | missense | Naturally occurring variant | A1 | p.(P550L) | 2020 | 31687873 | |||||||||
| 1136 | Wilson disease | ATP7B | missense | Naturally occurring variant | Felis_catus_9.0 | A1 | g.19611002C>G | c.3890C>G | p.(T1297R) | XM_023251176.1; XM_023251176.1 | 2019 | 30561139 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. |
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.
| 2020 | Asada, H., Chambers, J.K., Kojima, M., Goto-Koshino, Y., Nakagawa, T., Yokoyama, N., Tsuboi, M., Uchida, K., Tsujimoto, H., Ohno, K. : |
| Variations in ATP7B in cats with primary copper-associated hepatopathy. J Feline Med Surg 22:753-759, 2020. Pubmed reference: 31687873 . DOI: 10.1177/1098612X19884763. | |
| 2019 | Asada, H., Kojima, M., Nagahara, T., Goto-Koshino, Y., Chambers, J.K., Nakagawa, T., Yokoyama, N., Uchida, K., Tsujimoto, H., Ohno, K. : |
| Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene. J Vet Intern Med 33:874-878, 2019. Pubmed reference: 30561139 . DOI: 10.1111/jvim.15399. |
Edit History
- Created by Frank Nicholas on 10 Dec 2019
- Changed by Frank Nicholas on 10 Dec 2019
- Changed by Frank Nicholas on 02 Oct 2020
- Changed by Imke Tammen2 on 17 Sep 2021