OMIA 002267-9685 : Progressive retinal atrophy, KIF3B-related in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 603754 (gene) , 618955 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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 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.

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".

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/

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

Variants

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 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
Bengal 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) 2020 32386558 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)

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.
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.

Edit History


  • Created by Frank Nicholas on 14 May 2020
  • Changed by Frank Nicholas on 14 May 2020