OMIA 001244-9685 : Retinal degeneration II in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 180380

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CEP290 centrosomal protein 290kDa Felis catus B4 NC_018729.3 (112607879..112514939) CEP290 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
Retinal degeneration II CEP290 splicing IVS50 + 9T>G 2007 17507457

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.
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., 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.
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.
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 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.
Narfström, K. :
Progressive retinal atrophy in the Abyssinian cat. Clinical characteristics. Invest Ophthalmol Vis Sci 26:193-200, 1985. Pubmed reference: 3972501.
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