A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
dc.contributor.author | Hitti-Malin, Rebekkah J | |
dc.contributor.author | Burmeister, Louise | |
dc.contributor.author | Lingaas, Frode | |
dc.contributor.author | Kaukonen, Maria | |
dc.contributor.author | Pettinen, Inka | |
dc.contributor.author | Lohi, Hannes | |
dc.contributor.author | Sargan, David | |
dc.contributor.author | Mellersh, Cathryn S | |
dc.date.accessioned | 2021-11-12T16:47:56Z | |
dc.date.available | 2021-11-12T16:47:56Z | |
dc.date.issued | 2021-11-08 | |
dc.identifier.issn | 2073-4425 | |
dc.identifier.uri | https://www.repository.cam.ac.uk/handle/1810/330591 | |
dc.description.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 (BBS2) (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. | |
dc.language | en | |
dc.publisher | MDPI AG | |
dc.subject | canine | |
dc.subject | PRA | |
dc.subject | retinal degeneration | |
dc.subject | BBS | |
dc.subject | BBS2 | |
dc.subject | syndromic | |
dc.title | A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. | |
dc.type | Article | |
dc.date.updated | 2021-11-12T16:47:55Z | |
prism.issueIdentifier | 11 | |
prism.publicationName | Genes (Basel) | |
prism.volume | 12 | |
dc.identifier.doi | 10.17863/CAM.78035 | |
dcterms.dateAccepted | 2021-11-04 | |
rioxxterms.versionofrecord | 10.3390/genes12111771 | |
rioxxterms.version | VoR | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.contributor.orcid | Burmeister, Louise [0000-0002-6551-055X] | |
dc.contributor.orcid | Kaukonen, Maria [0000-0002-2146-4694] | |
dc.contributor.orcid | Pettinen, Inka [0000-0002-7632-3936] | |
dc.contributor.orcid | Lohi, Hannes [0000-0003-1087-5532] | |
dc.contributor.orcid | Sargan, David [0000-0001-9897-2489] | |
dc.identifier.eissn | 2073-4425 | |
cam.issuedOnline | 2021-11-08 |
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