OMIA 000881-9685 : Rod-cone dysplasia in Felis catus |
In other species:
dog
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
613829 (trait)
,
602225 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Dominant
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2010
Species-specific symbol:
Rdy
Molecular basis:
Menotti-Raymond et al. (2010) provided convincing evidence that this form of retinopathy, so long studied, is the result of a frameshift mutation due to a single base deletion in the cone-rod homeobox-containing gene (CRX).
Pathology:
Occelli et al. (2016) provided a comprehensive description of the pathogenesis of the disorder resulting from the frameshift variant.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CRX | cone-rod homeobox | Felis catus | E2 | NC_018737.3 (6108511..6098776) | CRX | 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 | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rod-cone dysplasia | CRX | Rdy | deletion, small (<=20) | E2 | A single base deletion in the cone-rod homeobox-containing gene (CRX): n.546delC | 2010 | 20053974 |
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.
| 2016 | Occelli, L.M., Tran, N.M., Narfström, K., Chen, S., Petersen-Jones, S.M. : | |
| CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci 57:3780-92, 2016. Pubmed reference: 27427859. DOI: 10.1167/iovs.16-19444. | ||
| 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., Deckman, KH., David, VA., Myrkalo, J., O'Brien, SJ., Narfstrom, K. : | |
| Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Ophthalmol Vis Sci 51:2852-2859, 2010. Pubmed reference: 20053974. DOI: 10.1167/iovs.09-4261. | ||
| 2002 | Gould, D.J., Sargan, D.R. : | |
| Autosomal dominant retinal dystrophy (Rdy) in Abyssinian cats: exclusion of PDE6G and ROM1 and likely exclusion of Rhodopsin as candidate genes Animal Genetics 33:436-440, 2002. Pubmed reference: 12464018. | ||
| 1999 | Chong, N.H.V., Alexander, R.A., Barnett, K.C., Bird, A.C., Luthert, P.J. : | |
| An immunohistochemical study of an autosomal dominant feline rod/cone dysplasia (Rdy cats) Experimental Eye Research 68:51-57, 1999. Pubmed reference: 9986741. DOI: 10.1006/exer.1998.0580. | ||
| 1993 | Gorin, M.B., Snyder, S., To, A., Narfstrom, K., Curtis, R. : | |
| The Cat RDS Transcript - Candidate Gene Analysis and Phylogenetic Sequence Analysis Mammalian Genome 4:544-548, 1993. Pubmed reference: 8118105. | ||
| Narfstrom, K., Ivert, L., Yamamoto, S., Gouras, P. : | ||
| Adaptation of Rod and Cone Electroretinograms in the Abyssinian Cat Hereditary Rod-Cone Degeneration Clinical Vision Sciences 8:177-185, 1993. | ||
| 1991 | Anderson, R.E., Maude, M.B., Nilsson, S.E., Narfstrom, K. : | |
| Plasma Lipid Abnormalities in the Abyssinian Cat with a Hereditary Rod-Cone Degeneration Experimental Eye Research 53:415-417, 1991. Pubmed reference: 1936178. | ||
| Holmes, N.G., Curtis, R. : | ||
| Changes in a Photoreceptor Polypeptide Correlating with an Early-Onset Retinal Dystrophy in the Cat Molecular and Cellular Biochemistry 107:111-117, 1991. Pubmed reference: 1791824. | ||
| Leon, A., Hussain, A.A., Curtis, R. : | ||
| Autosomal Dominant Rod Cone Dysplasia in the Rdy Cat .2. Electrophysiological Findings Experimental Eye Research 53:489-502, 1991. Pubmed reference: 1936184. | ||
| 1990 | Leon, A., Curtis, R. : | |
| Autosomal Dominant Rod Cone Dysplasia in the Rdy Cat .1. Light and Electron Microscopic Findings Experimental Eye Research 51:361-381, 1990. Pubmed reference: 2209749. | ||
| 1987 | Curtis, R., Barnett, K.C., Leon, A. : | |
| An early-onset retinal dystrophy with dominant inheritance in the Abyssinian cat. Clinical and pathological findings Investigative Ophthalmology and Visual Science 28:131-139, 1987. Pubmed reference: 3804643. | ||
| 1985 | Barnett, KC., Curtis, R. : | |
| Autosomal dominant progressive retinal atrophy in Abyssinian cats. J Hered 76:168-70, 1985. Pubmed reference: 3998438. |
Edit History
- Created by Frank Nicholas on 08 Apr 2010
- Changed by Frank Nicholas on 30 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 22 Mar 2019