OMIA 001071-9685 : Wilson disease in Felis catus

In other species: dog , pig , cattle , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 277900

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."

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_018723.3 (19540847..19618882) ATP7B 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.

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
Wilson disease ATP7B missense c.3890C>G (p. T1297R) 2019 30561139

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 <i>ATP7B</i> 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