OMIA:001314-9615 : Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613810 (trait) , 180071 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1999
Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific symbol: rcd3
History: The first report of this disorder was by Keep (1972).
Mapping: The first step in the investigation of Petersen-Jones et al. (1999) was to show that the canine PDE6A gene co-segregates with the disorder.
Molecular basis: By mapping, cloning and sequencing a very likely comparative candidate gene (based on information concerning closely related genes associated with similar disorders in humans and dogs), Petersen-Jones et al. (1999) showed that the molecular basis of this particular type of progressive retinal atrophy is the deletion of a single base in codon 616 of the gene for the alpha subunit of cyclic guanosine monophosphate (cGMP) phosphodiesterase (PDE6A), which is "predicted to lead to a frame shift resulting in a string of 28 altered codons followed by a premature stop codon".
Breeds:
Cardigan Welsh Corgi (Dog) (VBO_0200290),
Chinese Crested (Dog) (VBO_0200345),
Pomeranian (Dog) (VBO_0201043).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PDE6A | phosphodiesterase 6A, cGMP-specific, rod, alpha | Canis lupus familiaris | 4 | NC_051808.1 (59584148..59644927) | PDE6A | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 475 | Cardigan Welsh Corgi (Dog) Chinese Crested (Dog) Pomeranian (Dog) | Rod-cone dysplasia 3 | PDE6A | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 4 | g.59145362del | c.1847del | p.(N616Tfs*29) | NM_001003073.1; NP_001003073.1; published as c.1940delA (based on GenBank Z68340); variant initially identified in Cardigan Welsh Corgi and later reported in additional breeds: PMID:27525650 | 1999 | 10393029 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001314-9615: 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.
| 2023 | Ghilardi, S., Bagardi, M., Frattini, S., Barbariga, G.E., Brambilla, P.G., Minozzi, G., Polli, M. : |
| Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open 10:e77, 2023. Pubmed reference: 38028226. DOI: 10.1002/vro2.77. | |
| Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : | |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| Rahman, J.U., Kumar, D., Singh, S.P., Shahi, B.N., Ghosh, A.K., Verma, M.K., Pathak, A., Dar, A.H., Kumar, A., Sharma, R.K. : | |
| Genome-wide identification and annotation of SNPs and their mapping in candidate genes related to milk production and fertility traits in Badri cattle. Trop Anim Health Prod 55:117, 2023. Pubmed reference: 36928332. DOI: 10.1007/s11250-023-03535-1. | |
| 2021 | Genetics Committee of the American College of Veterinary Opthalmologists : |
| The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf , 2021. | |
| 2019 | Donner, J., Anderson, H., Davison, S., Hughes, A.M., Bouirmane, J., Lindqvist, J., Lytle, K.M., Ganesan, B., Ottka, C., Ruotanen, P., Kaukonen, M., Forman, O.P., Fretwell, N., Cole, C.A., Lohi, H. : |
| Correction: Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet 15:e1007938, 2019. Pubmed reference: 30657768. DOI: 10.1371/journal.pgen.1007938. | |
| 2017 | Mowat, F.M., Occelli, L.M., Bartoe, J.T., Gervais, K.J., Bruewer, A.R., Querubin, J., Dinculescu, A., Boye, S.L., Hauswirth, W.W., Petersen-Jones, S.M. : |
| Gene therapy in a large animal model of PDE6A-retinitis pigmentosa. Front Neurosci 11:342, 2017. Pubmed reference: 28676737. DOI: 10.3389/fnins.2017.00342. | |
| 2016 | Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., Lohi, H. : |
| Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005. | |
| 2014 | Downs, L.M., Hitti, R., Pregnolato, S., Mellersh, C.S. : |
| Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol 17:126-30, 2014. Pubmed reference: 24255994. DOI: 10.1111/vop.12122. | |
| 2012 | Miyadera, K., Acland, G.M., Aguirre, G.D. : |
| Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3. | |
| 2009 | Tuntivanich, N., Pittler, SJ., Fischer, AJ., Omar, G., Kiupel, M., Weber, AJ., Yao, S., Steibel, JP., Wali Khan, N., Petersen-Jones, S. : |
| Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest Ophthalmol Vis Sci 50:801-813, 2009. Pubmed reference: 18775863. DOI: 10.1167/iovs.08-2562. | |
| 2000 | Petersen-Jones, S.M., Zhu, F.X. : |
| Development and use of a polymerase chain reaction-based diagnostic test for the causal mutation of progressive retinal atrophy in Cardigan Welsh Corgis American Journal of Veterinary Research 61:844-846, 2000. Pubmed reference: 10895911. | |
| 1999 | Petersen-Jones, S.M., Entz, D.D., Sargan, D.R. : |
| CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog Investigative Ophthalmology & Visual Science 40:1637-1644, 1999. Pubmed reference: 10393029. | |
| 1972 | Keep, J.M. : |
| Clinical aspects of progressive retinal atrophy in the Cardigan Welsh Corgi Aust Vet J 48:197-9, 1972. Pubmed reference: 5082485. DOI: 10.1111/j.1751-0813.1972.tb09275.x. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 29 Nov 2011
- Changed by Frank Nicholas on 02 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 21 May 2013
- Changed by Imke Tammen2 on 17 Jun 2023