Retinal atrophy, Bardet-Biedl syndrome 2 (BBS2)

Gene: BBS2

Transmission: Autosomal recessive (most likely)

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, BBS2 gene; c.1222 G>C, p.(A408P), exon11

Medical systems: Ocular, dental

Breeds: Collie, Miniature American Shepherd, Miniature Australian Shepherd, Shetland Sheepdog

References:

OMIA link: [2484-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Genetics Committee of the American College of Veterinary Ophthalmologists. (2021) The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition.  [https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf]

Hitti-Malin RJ, Burmeister LM. Lingaas F, et al. (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) 12:1771. [pubmed/34828377]