OMIA:001575-9615 : Rod-cone dysplasia 4 in Canis lupus familiaris
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613428 (trait) , 613425 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific name: progressive retinal atrophy
Species-specific symbol: rcd4
Mapping: Using a GWAS on 16 cases and 22 controls in the Gordon Setter breed, Downs et al. (2013) mapped this disorder to 3.2 Mb region on chromosome CFA17.
Molecular basis: Downs et al. (2013) reported the causal mutation of this type of progressive retinal atrophy in Gordon Setter and Irish Setters as being a frameshift mutation (c.3149_3150insC) in the gene C2orf71 (now called C17H2orf71 or photoreceptor cilium actin regulator, PCARE). However, this mutation does not account for all cases, indicating that there are more causal mutations yet to be discovered.
Downs et al. (2014) reported the same likely causal variant in Standard Poodles and Tibetan Terriers.
Svensson et al. (2016) reported the same likely causal variant in most (but not all) cases in the Polski Owczarek Nizinny breed.
Karlskov-Mortensen et al. (2018) reported the same likely causal variant in the Old Danish Pointing Dog, Miniature Poodles and the Polski Owczarek Podhalanski breed, noting that (given the widespread occurrence in many breeds) the variant must have come into existence prior to the creation of modern dog breeds.
Genetic testing: A DNA test for this disorder is provided by the UK Animal Health Trust. Details are available at: http://www.aht.org.uk/genetics_prarcd4.html
Breeds: Gordon Setter, Irish Setter, Miniature Poodle, Old Danish Pointing Dog (Dog) (VBO_0000668), Polski Owczarek Nizinny, Polski Owczarek Podhalanski, Standard Poodle, Tibetan Terrier.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|C17H2orf71||chromosome 17 open reading frame, human C2orf71||Canis lupus familiaris||17||NC_051821.1 (23473219..23461566)||C17H2orf71||Homologene, Ensembl , NCBI gene|
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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|
|583||Gordon Setter Irish Setter Miniature Poodle Old Danish Pointing Dog (Dog) Polski Owczarek Nizinny Polski Owczarek Podhalanski Standard Poodle Tibetan Terrier||Rod-cone dysplasia 4||C17H2orf71||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||17||g.22907394_22907395insG||c.3149_3150insC||p.(C1051Vfs*90)||NM_001284459.1; NP_001271388.1; genomic position adjusted based on HGVS 3' rule; EVA variant with equivalent alleles: rs397510935||rs1152388416||rs1152388416||2013||22686255|
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.
|2019||Lewis, T.W., Mellersh, C.S. :|
|Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096 . DOI: 10.1371/journal.pone.0209864.|
|2018||Karlskov-Mortensen, P., Proschowsky, H.F., Gao, F., Fredholm, M. :|
|Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet 49:237-241, 2018. Pubmed reference: 29624701 . DOI: 10.1111/age.12659.|
|2016||Svensson, M., Olsén, L., Winkler, P.A., Petersen-Jones, S.M., Bergström, T., Garncarz, Y., Narfström, K. :|
|Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol 19:195-205, 2016. Pubmed reference: 26009980 . DOI: 10.1111/vop.12284.|
|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.|
|2013||Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. :|
|Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44:169-77, 2013. Pubmed reference: 22686255 . DOI: 10.1111/j.1365-2052.2012.02379.x.|
|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.|
|2011||[No authors listed] :|
|Inherited disease: new DNA test to help detect PRA mutation in Gordon setters. Vet Rec 168:175, 2011. Pubmed reference: 21493523 . DOI: 10.1136/vr.d1014.|
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