OMIA:002267-9685 : Retinal atrophy, progressive, KIF3B-related in Felis catus (domestic cat) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603754 (gene) , 618955 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Cross-species summary: Progressive, non-inflammatory degeneration or dysplasia of rods and cones or just of rods, leading to firstly night blindness, and later to blindness during the day.
Species-specific name: inherited retinal dystrophic or degenerative disorders; early-onset, autosomal-recessive, progressive retinal degeneration in Bengal cats; Bengal progressive retinal degeneration
Species-specific description: This is an interesting example of where mapping and sequence knowledge in the cat provided sufficient information to enable human geneticists to identify two likely causal variants in humans.
Inheritance: Ofri et al. (2015): "Pedigree analysis, along with test and complementation breedings, indicated autosomal recessive inheritance and suggested that this disease is nonallelic to a retinal degeneration found in Persian cats."
Mapping: Cogné et al. (2020) "performed a genome-wide association study on 98 Bengal cats to localize an associated region on cat chromosome A3".
Molecular basis: Cogné et al. (2020) "overlaid . . . [the mapping results - see above] with whole-genome sequencing data from a trio of cats from the Bengal research colony . . . . The KIF3B p.Ala334Thr-encoding change was the sole variant that segregated with disease and is predicted to impair the kinesin motor domain".
Clinical features: Ofri et al. (2015): "Ophthalmoscopic signs of retinal degeneration were noted at 9 weeks of age and became more noticeable over the next 4 months. Visual deficits were behaviorally evident by 1 year of age. Electroretinogram demonstrated reduced rod and cone function at 7 and 9 weeks of age, respectively. Rod responses were mostly extinguished at 14 weeks of age; cone responses were minimal by 26 weeks."
Pathology: Ofri et al. (2015): "Histologic degeneration was first observed at 8 weeks, evidenced by reduced photoreceptor numbers, then rapid deterioration of the photoreceptor layer and, subsequently, severe outer retinal degeneration."
Genetic testing: The web site of the Veterinary Genetics Laboratory at UC Davis is advertising a DNA test for this disorder: https://www.vgl.ucdavis.edu/services/cat/BengalPRA.php Langford Vets also offer the test: https://www.langfordvets.co.uk/diagnostic-laboratories/services/cat-genetic-testing/ The likely causal variant was published after DNA testing was made available. (Thanks to Maarten de Groot for advising FN of the test (5 May 2017). The likely causal variant was published by Cogné et al. (2020).
Breeds:
Bengal (Cat) (VBO_0100040),
Highlander (Cat) (VBO_0100114),
Highlander Shorthair (Cat) (VBO_0100116),
Savannah (Cat) (VBO_0100208).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
KIF3B | kinesin family member 3B | Felis catus | A3 | NC_058370.1 (26544829..26503288) | KIF3B | 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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1191 | Bengal (Cat) Highlander (Cat) Highlander Shorthair (Cat) Savannah (Cat) | Progressive retinal atrophy | KIF3B | missense | Naturally occurring variant | Felis_catus_9.0 | A3 | g.26784019C>T | c.1000G>A | p.(A334T) | ENSFCAT00000022266; c.1000G>A (p.Ala334Thr) | rs5334475117 | 2020 | 32386558 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Additional breeds reported based on PMID:35709088. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002267-9685: 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.
2022 | Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. : |
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804. | |
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. | |
2020 | Cogné, B., Latypova, X., Senaratne, L.D.S., Martin, L., Koboldt, D.C., Kellaris, G., Fievet, L., Le Meur, G., Caldari, D., Debray, D., Nizon, M., Frengen, E., Bowne, S.J. : |
Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy. Am J Hum Genet 106:893-904, 2020. Pubmed reference: 32386558. DOI: 10.1016/j.ajhg.2020.04.005. | |
Lyons, L.A. : | |
Precision medicine in cats-The right biomedical model may not be the mouse! PLoS Genet 16:e1009177, 2020. Pubmed reference: 33290388. DOI: 10.1371/journal.pgen.1009177. | |
2015 | Ofri, R., Reilly, C.M., Maggs, D.J., Fitzgerald, P.G., Shilo-Benjamini, Y., Good, K.L., Grahn, R.A., Splawski, D.D., Lyons, L.A. : |
Characterization of an early-onset, autosomal recessive, progressive retinal degeneration in Bengal cats. Invest Ophthalmol Vis Sci 56:5299-308, 2015. Pubmed reference: 26258614. DOI: 10.1167/iovs.15-16585. | |
2011 | Swanson, W.F., Bateman, H.L., Newsom, J., Conforti, V.A., Herrick, J.R., Lambo, C.A., Haskins, M.E., Lyons, L.A., Kittleson, M.D., Harris, S.P., Fyfe, J.C., Magarey, G.M. : |
Propagation of multiple cat hereditary disease models following assisted reproduction with frozen semen and embryos Reproduction, Fertility and Development 24:139-140 (Abstract 55), 2011. |
Edit History
- Created by Frank Nicholas on 14 May 2020
- Changed by Frank Nicholas on 14 May 2020
- Changed by Imke Tammen2 on 07 May 2023
- Changed by Imke Tammen2 on 08 May 2023
- Changed by Imke Tammen2 on 21 Jun 2024