Affected gene: BBS2  
Inheritance: Autosomal recessive  
Mutation: CanFam3.1 chr2 g.59693737G>C c.1222G>C  
OMIA link: 002484-9615  

Breeds appropriate for testing: Shetland Sheepdog  

Symptoms:  
Dogs affected by BBS2-PRA exhibit physical characteristics such as an upturned nose, unusual coat texture that is wavy, dental defects, and eventually develop kidney problems. Phenotypic changes are recognizable from a young age and become more evident as the dogs grow, becoming more apparent around 6 months of age. This condition is comparable to a human syndrome called Bardet-Biedl Syndrome (pronounced BAR-day BEED-el). So far, the mutation has not been found in other breeds.

References:  
- Hitti-Malin RJ, Burmeister LM, Lingaas F, Kaukonen M, Pettinen I, Lohi H, Sargan D, Mellersh CS. (2021). A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. Genes (Basel). 12(11):1771. DOI: 10.3390/genes12111771. PMID: 34828377; PMCID: PMC8624581.