Retinal atrophy, progressive (IMPG2 related)
Gene: IMPG2
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: Insertion, IMPG2 gene; insertion LINE-1 sequences at 200 bp before the IMPG2 gene
Medical system: Oculaire
Breeds: Lhasa Apso, Shih Tzu, Yorkshire Terrier
References:
OMIA link: [2289-9615]
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, Ricketts SL, et al. (2020) A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. BMC Genet 21:100. [pubmed/32894063]