OMIA 002267-9685 : Progressive retinal atrophy, KIF3B-related in Felis catus
Langford Vets also offer the test: https://www.langfordvets.co.uk/diagnostic-laboratories/services/cat-genetic-testing/
To FN's knowledge, the likely causal variant has not yet (5 May 2017) been published. (Thanks to Maarten de Groot for advising FN of the test.)
The likely causal variant was published by Cogné et al. (2020).Breed: Bengal. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIF3B||kinesin family member 3B||Felis catus||A3||NC_018725.3 (26807958..26766484)||KIF3B||Homologene, Ensembl, NCBI gene|
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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Bengal||Progressive retinal atrophy||KIF3B||missense||Felis_catus_9.0||A3||g.26784019C>T||c.1000G>A||p.(A334T)||ENSFCAT00000022266; c.1000G>A (p.Ala334Thr)||2020||32386558||The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)|
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.
|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 :, 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.|
- Created by Frank Nicholas on 14 May 2020
- Changed by Frank Nicholas on 14 May 2020