OMIA 001575-9615 : Rod-cone dysplasia 4 in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613428

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 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). 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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
C17H2orf71 chromosome 17 open reading frame, human C2orf71 Canis lupus familiaris 17 NC_006599.3 (22910639..22898998) C17H2orf71 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
Gordon Setter Irish Setter Miniature Poodle Old Danish Pointing Dog Polski Owczarek Nizinny Polski Owczarek Podhalanski Standard Poodle Tibetan Terrier Rod-cone dysplasia 4 C17H2orf71 insertion, small (<=20) c.3149_3150insC 2013 22686255

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.
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.

Edit History


  • Created by Frank Nicholas on 13 Jul 2011
  • Changed by Frank Nicholas on 02 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 01 Jul 2012
  • Changed by Frank Nicholas on 20 May 2013
  • Changed by Frank Nicholas on 17 Jun 2013
  • Changed by Frank Nicholas on 09 Apr 2018