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Progressive retinal atrophy (IFT122-PRA) - Lapponian Herder Type
| Acronym: | IFT122-PRA |
| Gene: | IFT122 |
| Mutation: | c.3176G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Progressive retinal atrophy (IFT122 PRA) is a genetic eye disorder, which belongs to blinding retinal degenerative diseases. There have been described more than 20 genes in dogs that can lead to retinal defects and progressive vision deprivation, but this type is specific for Lapponian Herder dogs. As other retinal disorders, IFT122 PRA is characterized by progressive loss of vision, retinal thinning, attenuation of the retinal blood vessels, and atrophy of the optic nerve head. The cause of the disorder is a missense variant in IFT122, a gene that encodes a protein involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation.
This retinal athropy disorder in Lapponian Herder dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. There is no cure for IFT122 PRA, and the only way to prevent it is early detection by genetic testing that can help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Kaukonen, M., Pettinen, I. T., Wickström, K., Arumilli, M., Donner, J., Juhola, I. J., Holopainen, S., Turunen, J. A., Yoshihara, M., Kere, J., & Lohi, H. (2021). A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. Human genetics, 140(11), 1569–1579. https://doi.org/10.1007/s00439-021-02266-3
Miyadera, K. (2012): Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome, 23: 40-61.