OMIA:001244-9685 : Retinal degeneration II in Felis catus (domestic cat) |
In other species: dog
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611755 (trait) , 610189 (trait) , 610142 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2007
Species-specific name: Late-onset photoreceptor degeneration
Species-specific symbol: rdAc
Molecular basis: Menotti-Raymond et al. (2007) reported a causal mutation: "A single-nucleotide polymorphism was characterized in intron 50 of CEP290 (IVS50 + 9T>G) that creates a strong canonical splice donor site, resulting in a 4-bp insertion and frameshift in the mRNA transcript, with subsequent introduction of a stop codon and premature truncation of the protein."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Minella et al. (2022) reported that "The comparably milder phenotype of CEP290 mutant cats [compared with human patients with CEP290 mutations] is likely due to the retained production of some full-length CEP290 protein with possible functional contributions from presence of truncated protein [in cats homozygous for the splicing variant listed below (OMIA variant 384)]."
Prevalence: Narfström et al. (2009): "A population genetic survey revealed that the rdAc allele is in moderate abundance in the Abyssinian breed in Europe and Australia. Surprisingly, homozygosity for the mutant allele was observed in a Siamese cat with ophthalmoscopic findings similar to those originally described for affected rdAc individuals." Menotti-Raymond et al. (2010) surveyed "41 cat breeds (846 individuals) to assess the incidence, frequency and clinical consequence of rdAc. The rdAc allele [OMIA variant 384] displayed widespread distribution, observed in 16/43 (37%) breeds, exhibiting a high allele frequency (∼33%) in North American and European Siamese populations." The cat sequenced to generate the Felis_catus_9.0 reference genome is homozygous for this variant.
Breeds:
Abyssinian (Cat) (VBO_0100000),
American Curl (Cat) (VBO_0100007),
American Wirehair (Cat) (VBO_0100021),
Balinese (Cat) (VBO_0100036),
Bengal (Cat) (VBO_0100040),
Colorpoint Shorthair (Cat) (VBO_0100074),
Cornish Rex (Cat) (VBO_0100077),
Munchkin (Cat) (VBO_0100169),
Ocicat (Cat) (VBO_0100179),
Oriental Shorthair (Cat) (VBO_0100184),
Peterbald (Cat) (VBO_0100189),
Siamese (Cat) (VBO_0100221),
Singapura (Cat) (VBO_0100224),
Somali (Cat) (VBO_0100229),
Tonkinese (Cat) (VBO_0100241).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CEP290 | centrosomal protein 290kDa | Felis catus | B4 | NC_058374.1 (110371062..110277873) | CEP290 | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 384 | Abyssinian (Cat) American Curl (Cat) American Wirehair (Cat) Balinese (Cat) Bengal (Cat) Colorpoint Shorthair (Cat) Cornish Rex (Cat) Munchkin (Cat) Ocicat (Cat) Oriental Shorthair (Cat) Peterbald (Cat) Siamese (Cat) Singapura (Cat) Somali (Cat) Tonkinese (Cat) | Retinal degeneration II | CEP290 | splicing | Naturally occurring variant | Felis_catus_9.0 | B4 | g.112522818A>C | c.7584+9T>G | XM_023256243.1; published as IVS50 + 9T>G. The cat sequenced to generate the Felis_catus_9.0 reference genome is homozygous for the likely causal variant. The genomic and cDNA coordinates had therefore been previously listed in this table as g.112522818TC>A and c.7584+9G>T. The information has been updated based on feedback from 潘旭 to reflect that the likely causal variant is c.7584+9G and that the normal allele is c.7584+9T[6/4/2023]. | 2007 | 17507457 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Variant was initially identified in the Abyssinian and Somali breeds but identified to be present in several other breeds (Menotti-Raymond et al., 2020; Pubmed:19747862) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001244-9685: 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 | Minella, A.L., Narfström Wiechel, K., Petersen-Jones, S.M. : |
| Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA CEP290 patients. Vet Ophthalmol , 2022. Pubmed reference: 36495011. DOI: 10.1111/vop.13052. | |
| 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. | |
| 2012 | May, C.A., Narfström, K. : |
| Retinal capillary morphology in the Abyssinian cat with hereditary retinal degeneration. Exp Eye Res 99:45-7, 2012. Pubmed reference: 22525835. DOI: 10.1016/j.exer.2012.03.022. | |
| 2011 | Narfström, K., Holland Deckman, K., Menotti-Raymond, M. : |
| The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness. J Ophthalmol 2011:906943, 2011. Pubmed reference: 21584261. DOI: 10.1155/2011/906943. | |
| Narfström, K., Menotti Raymond, M., Seeliger, M. : | |
| Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies. Vet Ophthalmol 14 Suppl 1:30-6, 2011. Pubmed reference: 21923821. DOI: 10.1111/j.1463-5224.2011.00915.x. | |
| 2010 | Menotti-Raymond, M., David, V.A., Pflueger, S., Roelke, M.E., Kehler, J., O'Brien, S.J., Narfström, K. : |
| Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds. Vet J 186:32-8, 2010. Pubmed reference: 19747862. DOI: 10.1016/j.tvjl.2009.08.010. | |
| Sargan, DR. : | |
| Retinal degeneration in cats: a tale of two means of motion. Vet J 186:3-5, 2010. Pubmed reference: 19744869. DOI: 10.1016/j.tvjl.2009.08.027. | |
| Thompson, S., Whiting, R.E., Kardon, R.H., Stone, E.M., Narfström, K. : | |
| Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex. Vet Ophthalmol 13:151-7, 2010. Pubmed reference: 20500714. DOI: 10.1111/j.1463-5224.2010.00772.x. | |
| 2009 | Narfström, K., David, V., Jarret, O., Beatty, J., Barrs, V., Wilkie, D., O'Brien, S., Menotti-Raymond, M. : |
| Retinal degeneration in the Abyssinian and Somali cat (rdAc): correlation between genotype and phenotype and rdAc allele frequency in two continents. Vet Ophthalmol 12:285-91, 2009. Pubmed reference: 19751487. DOI: 10.1111/j.1463-5224.2009.00710.x. | |
| 2008 | Vaegan, Narfström, K. : |
| Amax to scotopic Imax diagnoses feline hereditary rod cone degeneration more efficiently than any other combination of long protocol electroretinogram parameters. Doc Ophthalmol 117:1-12, 2008. Pubmed reference: 18188631. DOI: 10.1007/s10633-007-9096-3. | |
| 2007 | Menotti-Raymond, M., David, V.A., Schäffer, A.A., Stephens, R., Wells, D., Kumar-Singh, R., O'Brien, S.J., Narfström, K. : |
| Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered 98:211-20, 2007. Pubmed reference: 17507457. DOI: 10.1093/jhered/esm019. | |
| 2006 | Kang Derwent, J.J., Padnick-Silver, L., McRipley, M., Giuliano, E., Linsenmeier, R.A., Narfström, K. : |
| The electroretinogram components in Abyssinian cats with hereditary retinal degeneration. Invest Ophthalmol Vis Sci 47:3673-82, 2006. Pubmed reference: 16877442. DOI: 10.1167/iovs.05-1283. | |
| Padnick-Silver, L., Kang Derwent, J.J., Giuliano, E., Narfström, K., Linsenmeier, R.A. : | |
| Retinal oxygenation and oxygen metabolism in Abyssinian cats with a hereditary retinal degeneration. Invest Ophthalmol Vis Sci 47:3683-9, 2006. Pubmed reference: 16877443. DOI: 10.1167/iovs.05-1284. | |
| 2005 | Hyman, J.A., Vaegan, Lei, B., Narfström, K.L. : |
| Electrophysiologic differentiation of homozygous and heterozygous Abyssinian-crossbred cats with late-onset hereditary retinal degeneration. Am J Vet Res 66:1914-21, 2005. Pubmed reference: 16334950. | |
| 2004 | Vaegan, Narfström, K. : |
| Optimal discrimination of an Abyssinian cat recessive retinal degeneration: a short electroretinogram protocol is more efficient than a long one. Clin Experiment Ophthalmol 32:619-25, 2004. Pubmed reference: 15633272. | |
| 2000 | Seeliger, M.W., Narfström, K. : |
| Functional assessment of the regional distribution of disease in a cat model of hereditary retinal degeneration. Invest Ophthalmol Vis Sci 41:1998-2005, 2000. Pubmed reference: 10845627. | |
| 1995 | Gorin, M.B., To, A.C., Narfstrom, K. : |
| Sequence analysis and exclusion of phosducin as the gene for the recessive retinal degeneration of the abyssinian cat Biochimica et Biophysica Acta - Gene Structure and Expression 1260:323-327, 1995. | |
| Leon, A., Levick, W.R., Sarossy, M.G. : | |
| Lesion topography and new histological features in feline taurine deficiency retinopathy Experimental Eye Research 61:731-741, 1995. Pubmed reference: 8846845. | |
| 1990 | Millichamp, N.J. : |
| Retinal Degeneration in the Dog and Cat Veterinary Clinics of North America-Small Animal Practice 20:799-835, 1990. | |
| 1989 | Jacobson, S.G., Kemp, C.M., Narfstrom, K., Nilsson, S.E.G. : |
| Rhodopsin Levels and Rod-Mediated Function in Abyssinian Cats with Hereditary Retinal Degeneration Experimental Eye Research 49:843-852, 1989. Pubmed reference: 2591499. | |
| Narfstrom, K., Nilsson, S.E. : | |
| Morphological Findings During Retinal Development and Maturation in Hereditary Rod-Cone Degeneration in Abyssinian Cats Experimental Eye Research 49:611-628, 1989. Pubmed reference: 2806428. | |
| Narfstrom, K., Arden, G.B., Nilsson, S.E.G. : | |
| Retinal Sensitivity in Hereditary Retinal Degeneration in Abyssinian Cats - Electrophysiological Similarities Between Man and Cat British Journal of Ophthalmology 73:516-521, 1989. Pubmed reference: 2757991. | |
| Vanveen, T., Cantera, R., Narfstrom, K., Nilsson, S.E., Sanyal, S., Wiggert, B., Chader, G.J. : | |
| Postnatal Development of Photoreceptor Proteins in Mutant Mice and Abyssinian Cats with Retinal Degeneration Inherited and Environmentally Induced Retinal Degenerations 314:275-289, 1989. | |
| 1986 | Narfström, K., Nilsson, S.E. : |
| Progressive retinal atrophy in the Abyssinian cat. Electron microscopy. Invest Ophthalmol Vis Sci 27:1569-76, 1986. Pubmed reference: 3771137. | |
| 1985 | Narfström, K. : |
| Progressive retinal atrophy in the Abyssinian cat. Clinical characteristics. Invest Ophthalmol Vis Sci 26:193-200, 1985. Pubmed reference: 3972501. | |
| Narfstrom, K.L., Nilsson, S.E., Andersson, B.E. : | |
| Progressive retinal atrophy in the Abyssinian cat: studies of the DC-recorded electroretinogram and the standing potential of the eye British Journal of Ophthalmology 69:618-623, 1985. Pubmed reference: 4016061. | |
| 1983 | Narfstrom, K.L. : |
| Hereditary progressive retinal atrophy in the Abyssinian cat Journal of Heredity 74:273-276, 1983. Pubmed reference: 6886375. | |
| 1973 | Aguirre, G.D. : |
| Hereditary retinal diseases in small animals Veterinary Clinics of North America 3:515-528, 1973. Pubmed reference: 4599339. | |
| Souri, E. : | |
| Eye diseases in two families of animals Veterinary Medicine and Small Animal Clinician 68:1011-1014, 1973. Pubmed reference: 4201466. |
Edit History
- Created by Frank Nicholas on 26 Nov 2007
- Changed by Frank Nicholas on 30 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 18 Jun 2013
- Changed by Imke Tammen2 on 17 Sep 2021
- Changed by Imke Tammen2 on 17 Sep 2022
- Changed by Frank Nicholas on 01 Jan 2023
- Changed by Imke Tammen2 on 06 Apr 2023