OMIA:002484-9615 : Bardet-Biedl syndrome 2 in Canis lupus familiaris
Categories: Vision / eye phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific description: Hitti-Malin et al. (2021) "elucidate the causal variant for a distinct form of [progressive retinal atrophy] PRA in the Shetland sheepdog, using a whole-genome sequencing approach."
Molecular basis: Hitti-Malin et al. (2021): "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 features: Hitti-Malin et al. (2021):" In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed."
Breed: Shetland Sheepdog.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|BBS2||Bardet-Biedl syndrome 2||Canis lupus familiaris||2||NC_051806.1 (60219421..60250791)||BBS2||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|
|1391||Shetland Sheepdog||Bardet-Biedl syndrome 2||BBS2||missense||Naturally occurring variant||CanFam3.1||2||g.59693737G>C||c.1222G>C||p.(A408P)||ENSCAFT00000014523.5; ENSCAFP00000013435.4||2021||34828377|
Cite this entry
|2021||Hitti-Malin, R.J., Burmeister, L.M., Lingaas, F., Kaukonen, M., Pettinen, I., Lohi, H., Sargan, D., Mellersh, C.S. :|
|A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. Genes (Basel) 12:1771, 2021. Pubmed reference: 34828377 . DOI: 10.3390/genes12111771.|
- Created by Imke Tammen2 on 01 Dec 2021