Files and links (1)
Published VersionCC BY-NC V4.0, Open Access
Journal article
CTSK variant implicated in suspected pyknodysostosis in a domestic cat
Journal of Feline Medicine and Surgery Open Reports, Vol.8(2), pp.1-9
2022
Abstract
Case summary:
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). A variant in CTSK was identified in the affected cat following whole-exome sequencing (WES). The cat was managed symptomatically with diet, environmental modifications and analgesia.
Relevance and novel information:
This is the first report of a cat with a similar clinical presentation and genetic variant to the hereditary human genetic disorder pyknodysostosis. In this case, WES was performed, which often facilitates the diagnosis of various hereditary disorders (ie, a conceptual framework for practicing feline genomic medicine). Despite the severe skeletal and appendicular abnormalities described, the cat was alive more than 2 years after its initial presentation.
Details
- Title
- CTSK variant implicated in suspected pyknodysostosis in a domestic cat
- Authors
- Maria Lyraki (Corresponding Author) - University of BristolAngie Hibbert (Author) - University of BristolSorrel Langley-Hobbs (Author) - University of BristolPhilippa Lait (Author) - University of BristolReuben M. Buckley (Author) - University of MissouriWesley C. Warren (Author) - Univ Missouri, Inst Data Sci & Informat, Dept Anim Sci, Dept Surg, Columbia, MO USALeslie A. Lyons (Author) - University of Missouri99 Lives Consortium (Research Group)Robert Harvey (Consortium Member) - University of the Sunshine Coast, Queensland, School of Health
- Publication details
- Journal of Feline Medicine and Surgery Open Reports, Vol.8(2), pp.1-9
- Publisher
- Sage Publications Ltd.
- Date published
- 2022
- DOI
- 10.1177/20551169221137536
- ISSN
- 2055-1169; 1098-612X
- Copyright note
- © The Author(s) 2022. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
- Grant note
- Funding for the whole-genome sequencing was provided by the Gilbreath McLorn Endowment and donations to the 99 Lives project, EveryCat Health Foundation (formerly the Winn Feline Foundation), the Miller Trust (MT18-009; MTW18-009) (LAL) and Mars Wisdom Health (RMB).
- Organisation Unit
- School of Health
- Language
- English
- Record Identifier
- 99982892602621
- Output Type
- Journal article
Metrics
16 Record Views