Affected Gene: BBS2
Transmission: Autosomal recessive
Mutation: CanFam3.1 chr2 g.59693737G>C c.1222G>C
OMIA Link: 002484-9615


Breeds Recommended for Testing: Shetland Sheepdog


Symptoms:
Dogs affected by BBS2-PRA exhibit physical features such as an upturned nose, an unusual wavy coat texture, dental defects, and eventually develop kidney problems. The phenotypic changes are noticeable from an early age and become increasingly evident as the dogs mature, becoming more apparent around 6 months of age. This condition is comparable to a human syndrome known as Bardet-Biedl Syndrome (pronounced BAR-day BEED-el). To date, 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. A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. Genes (Basel). 2021 Nov 8;12(11):1771. doi: 10.3390/genes12111771. PMID: 34828377; PMCID: PMC8624581.