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

Considered a defect: 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

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.

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 Australian Veterinary Journal 48:197-199, 1972. Pubmed reference: 5082485.

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