OMIA:002607-9685 : Pyknodysostosis in Felis catus (domestic cat) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601105 (gene) , 265800 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2022
Molecular basis: Lyraki et al. (2022): "A variant in CTSK [omia.variant:1517] was identified in the affected cat following whole-exome sequencing (WES)."
Clinical features: Lyraki et al. (2022): "A 9-month-old entire male domestic longhair cat presented with a history of pathological fractures, chronic musculoskeletal pain and poor growth. Multiple facial and skeletal abnormalities were identified on physical examination and advanced imaging (CT and radiographs)."
Breed:
Domestic Longhair (Cat) (VBO_0100118).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CTSK | cathepsin K | Felis catus | C1 | NC_058375.1 (105454360..105444764) | CTSK | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1517 | Domestic Longhair (Cat) | Pyknodysostosis | CTSK | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | F.catus_Fca126_mat1.0 | C1 | NC_058375.1:g.105446558G>A | XM_045033477.1:c.724C>T | XP_044889412.1:p.(R242*) | variant is reported in a single affected cat | 2022 | 36532681 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002607-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Boeykens, F., Abitbol, M., Anderson, H., Casselman, I., de Citres, C.D., Hayward, J.J., Häggström, J., Kittleson, M.D., Lepri, E., Ljungvall, I., Longeri, M., Lyons, L.A., Ohlsson, Å., Peelman, L., Smets, P., Vezzosi, T., van Steenbeek, F.G., Broeckx, B.J.G. : |
| Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci 11:1497817, 2024. Pubmed reference: 39703406. DOI: 10.3389/fvets.2024.1497817. | |
| 2022 | Lyraki, M., Hibbert, A., Langley-Hobbs, S., Lait, P., Buckley, R.M., Warren, W.C., Lyons, L.A. : |
| CTSK variant implicated in suspected pyknodysostosis in a domestic cat. JFMS Open Rep 8:20551169221137536, 2022. Pubmed reference: 36532681. DOI: 10.1177/20551169221137536. |
Edit History
- Created by Imke Tammen2 on 09 Jan 2023
- Changed by Imke Tammen2 on 09 Jan 2023
- Changed by Imke Tammen2 on 22 Jun 2025