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Progressive Retinal Atrophy, PRA1
Breed: Miniature Schnauzers
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Progressive Retinal Atrophy, PRA1
OMIA
1572
Gene Name
SLC4A3
Mutation
c.2685delA2687_2688insTAGCTA
Mutation 2
2601_2602insC
Test Type
Genetic Disease/Disorder
Details
This form of PRA for the Golden Retriever is one of several that can be tested for. The signs of GR PRA1 are typical of the late-onset forms of the disease. Age of diagnosis is most often around 6 years, but there is variation across the breed. Dogs typically experience night blindness leading to reduced sight even in bright conditions. There are known to be more than one gene mutations that cause PRA(prcd) in the Golden Retriever. Any test for GR PRA 1 can only confirm for the mutation, or not, in this specific form.
Details 2
Most PRA cases in the Golden Retriever (GR) are clinically indistinguishable from other forms of PRA. The mode of inheritance appears from pedigree information to be autosomal recessive. While the age of diagnosis is most commonly at a relatively late age of approximately 6 years there is a great deal of variation within the breed. There are known to be more than one gene mutations that cause PRA(prcd) in the Golden Retriever.
Published
Downs, L.M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., Hübinette, L., Lindblad-Toh, K., Bergström, T., Mellersh, C.S. : A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed reference: 21738669. DOI: 10.1371/journal.pone.0021452.
Published 2
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Golden Retriever
Breed-specific 1
Golden Retrievers
Breed-specific 1 Details
Publication demonstrated strong association between mutation and disease in Golden retrievers. No functional evidence presented. Downs et al., (2011) A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations. PLoS ONE, 6, e21452.
Breed-specific 2
Goldendoodles
Breed-specific 2 Details
Unpublished. But given Goldendoodles and Labradoodles have Golden Retriever ancestry it is not unreasonable to screen these cross-breeds for this mutation.
Breed-specific 3
Lhasa Apso, Miniature Schnauzers, Toy Fox Terrier
Breed-specific details 3
Unpublished.
HSP Test-Specific Data
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
SLC4A3
Mutation
2601_2602insC
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