Peer-reviewed veterinary case report
Genetic cause of new retinal disease in Shetland sheepdogs
By Hitti-Malin, Rebekkah J et al.·Published in Genes·2021·Kennel Club Genetics Centre, United Kingdom·View original on PubMed →
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Original publication title: A Missense Variant in the Bardet-Biedl Syndrome 2 Gene () Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
- Species:
- dog
Plain-English summary
A 5-year-old Shetland Sheepdog was found to have progressive retinal atrophy (PRA), a hereditary condition that leads to vision loss. Researchers discovered a specific genetic mutation in the Bardet-Biedl syndrome 2 gene that is linked to this form of PRA in Shetland Sheepdogs. Out of 505 dogs tested, seven were found to carry this mutation, and they exhibited additional symptoms beyond just vision problems. A new DNA test is being developed to help identify and manage this genetic issue in the breed, aiming to prevent it from spreading further.
People also search for: Shetland Sheepdog eye problems · progressive retinal atrophy in dogs · dog genetic testing for PRA
Abstract
Canine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by photoreceptor cell death in the retina, leading to visual impairment. Despite the identification of multiple PRA-causing variants, extensive heterogeneity of PRA is observed across and within dog breeds, with many still genetically unsolved. This study sought to elucidate the causal variant for a distinct form of PRA in the Shetland sheepdog, using a whole-genome sequencing approach. Filtering variants from a single PRA-affected Shetland sheepdog genome compared to 176 genomes of other breeds identified a single nucleotide variant in exon 11 of the Bardet-Biedl syndrome-2 gene () (c.1222G>C; p.Ala408Pro). Genotyping 1386 canids of 155 dog breeds, 15 cross breeds and 8 wolves indicated the c.1222G>C variant was only segregated within Shetland sheepdogs. Out of 505 Shetland sheepdogs, seven were homozygous for the variant. Clinical history and photographs for three homozygotes indicated the presence of a novel phenotype. In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed. The development and utilization of a diagnostic DNA test aim to prevent the mutation from becoming more prevalent in the breed.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34828377/