Peer-reviewed veterinary case report
Late-onset blindness in Gordon and Irish Setters linked to C2orf71
By Downs, L M et al.·Published in Animal genetics·2013·The Kennel Club Genetics Centre, United Kingdom·View original on PubMed →
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Original publication title: Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.
- Species:
- dog
Plain-English summary
A group of Gordon Setters and Irish Setters were found to have progressive retinal atrophy (PRA), a condition that leads to vision loss and blindness. Researchers discovered a specific genetic mutation in a gene called C2orf71 that was present in many of the affected dogs. This mutation was found in 19 out of 21 PRA cases in Gordon Setters and also in some Irish Setters. However, not all cases of PRA in these breeds are linked to this mutation, suggesting there may be other genetic causes as well. Understanding this mutation could help in managing and potentially preventing PRA in these breeds.
People also search for: Gordon Setter vision loss · Irish Setter blindness · progressive retinal atrophy in dogs · dog eye problems genetic mutation
Abstract
Progressive retinal atrophy (PRA) in dogs is characterised by the degeneration of the photoreceptor cells of the retina, resulting in vision loss and eventually complete blindness. The condition affects more than 100 dog breeds and is known to be genetically heterogeneous between breeds. Around 14 mutations have now been identified that are associated with PRA in around 49 breeds, but for the majority of breeds the mutation(s) responsible have yet to be identified. Using genome-wide association with 16 Gordon Setter PRA cases and 22 controls, we identified a novel PRA locus, termed rod-cone degeneration 4 (rcd4), on CFA17 (Praw  = 2.22 × 10(-8) , Pgenome  = 2.00 × 10(-5) ), where a 3.2-Mb region was homozygous within cases. A frameshift mutation was identified in C2orf71, a gene located within this region. This variant was homozygous in 19 of 21 PRA cases and was at a frequency of approximately 0.37 in the Gordon Setter population. Approximately 10% of cases in our study (2 of 21) are not associated with this C2orf71 mutation, indicating that PRA in this breed is genetically heterogeneous and caused by at least two mutations. This variant is also present in a number of Irish Setter dogs with PRA and has an estimated allele frequency of 0.26 in the breed. The function of C2orf71 remains unknown, but it is important for retinal development and function and has previously been associated with autosomal recessive retinitis pigmentosa in humans.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22686255/