Retinal atrophy, progressive (IFT122 related)

Gene: IFT122

Transmission: Autosomal recessive

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, IFT122 gene; c.3176 G>A, p.(R1059H)

Medical system: Oculaire

Breeds: American Staffordshire Terrier/Amstaff, Finnish Lapphund, Lapponian Herder

References:

OMIA link: [2320-9615]

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]

Kaukonen M, Pettinen IT, Wickström K, et al. (2021) A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. Hum Genet 140:1569-1579.  [pubmed/33606121]