OMIA:002525-9685 : Polycystic kidney disease-2 in Felis catus
In other species: pig
Categories: Renal / urinary system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 173910 (gene) , 613095 (trait)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Molecular basis: Rodney et al. (2021): "A novel frameshift mutation in polycystin 2 (PKD2), ... was predicted to disrupt protein function in a Siberian cat shown by ultrasound to have PKD. This mutation, a single-base deletion, causes a truncated protein (p.Lys737Asnfs*2). This variant was heterozygous in the affected cat and unique to the exome data and was not identified in the 195-cat cohort of the 99 Lives variant dataset ... . This variant was also identified in both grandparents on the dam’s side of the pedigree, although kidney ultrasound was not available. However, analysis of other Siberian cats with PKD diagnosed by ultrasound failed to identify the c.2211delG variant in PKD2, suggesting that this could be a private variant and that other disease-causing PKD variants are yet to be discovered in this breed."
Breed: Siberian (Cat) (VBO_0100223).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PKD2||polycystic kidney disease 2 (autosomal dominant)||Felis catus||B1||NC_058371.1 (132565063..132514456)||PKD2||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|
|1424||Siberian (Cat)||Polycystic kidney disease 2||PKD2||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B1||g.134992553del||c.2211del||(p.K737Nfs*2)||XM_011281830.3; XP_011280132.2; published as c.2211delG||2021||33785770|
|2021||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.|
- Created by Imke Tammen2 on 03 Feb 2022