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Progressive Retinal Atrophy - early retinal degeneration (PRA-ERD) - Norwegian Elkhound Type
| Acronym: | PRA-ERD |
| Gene: | STK38L |
| Mutation: | g.20447921_20447920ins.SINE |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Progressive Retinal Atrophy (PRA-ERD) is a genetic eye disorder that belongs to blinding retinal degenerative diseases and different types caused by variants in more than 20 genes have been identified in dogs so far. The specific type of PRA that causes early retinal degeneration in Norwegian Elkhound dogs is characterized by aberrant functional and structural development of rod photoreceptors with subsequent retinal degeneration. The disease often becomes evident between the 3 and 10 weeks of age since eye cell differentiation occurs postnatally in dogs, unlike in humans. The cause of the disorder is a short interspersed nuclear element (SINE) insertion within the STK38L gene with an important role in the neuronal and photoreceptor cell function pathway.
This retinal atrophy disorder found in Norwegian Elkhound dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated STK38L 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. Since there is no cure for PRA-ERD, 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:
Goldstein, O., Kukekova, A. V., Aguirre, G. D., Acland, G. M. (2010). Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics, 96(6), 362–368. https://doi.org/10.1016/j.ygeno.2010.09.003
Berta, Á. I., Boesze-Battaglia, K., Genini, S., Goldstein, O., O Brien, P. J., Szél, Á., Acland, G. M., Beltran, W. A., Aguirre, G. D. (2011). Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PloS one, 6(9), e24074. https://doi.org/10.1371/journal.pone.0024074
Acland, G. M., Aguirre, G. D. (1987). Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds. Experimental eye research, 44(4), 491–521. https://doi.org/10.1016/s0014-4835(87)80160-4