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Progressive Retinal Atrophy rcd4 (PRA rcd4)
Breed: Polish Lowland Sheepdog
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
General
Disease Name
Progressive Retinal Atrophy rcd4 (PRA rcd4)
OMIA
1575
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Test Type
Genetic Disease/Disorder
Details
PRA rcd4 is one of a number of late-onset PRAs (sometimes called LOPRA) Unlike other forms of PRA, such as rcd1, the age at which dogs with the rcd4 mutation develop PRA varies with reports as young as 2-3 up to 10-11 yo. The most common age of diagnosis and possible onset seems to be around 9 years. It is unknown if this is due to delays in clinical diagnosis, a manifestation of the disease, or some other variable. Owners and breeders should be aware that some breeds, such as the Irish Setter, have at least 3 identified different forms of PRA mutations, and that any tests for rcd4 identify the risks for that specific mutation only.
Details 2
PRA rcd4 is one of a number of late-onset PRAs (sometimes called LOPRA) Unlike other forms of PRA, such as rcd1, the age at which dogs with the rcd4 mutation develop PRA varies with reports as young as 2-3 up to 10-11 yo. It is unknown if this is due to delays in clinical diagnosis, or some other variable. Owners and breeders should be aware that some breeds, such as the Irish Setter, have at least 3 identified different forms of PRA mutations, and that any tests for rcd4 identify the risks for that specific mutation only.
Published
Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44:169-77, 2013. Pubmed reference: 22686255. DOI: 10.1111/j.1365-2052.2012.02379.x.; 2014 Downs, L.M., Hitti, R., Pregnolato, S., Mellersh, C.S. : Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol 17:126-30, 2014. Pubmed reference: 24255994. DOI: 10.1111/vop.12122.
Published 2
2019 Lewis, T.W., Mellersh, C.S. : Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096. DOI: 10.1371/journal.pone.0209864.
Published 3
2018 Karlskov-Mortensen, P., Proschowsky, H.F., Gao, F., Fredholm, M. : Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet 49:237-241, 2018. Pubmed reference: 29624701. DOI: 10.1111/age.12659.
Published 4
2016 Svensson, M., Olsén, L., Winkler, P.A., Petersen-Jones, S.M., Bergström, T., Garncarz, Y., Narfström, K. : Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol 19:195-205, 2016. Pubmed reference: 26009980. DOI: 10.1111/vop.12284.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Gordon Setter, Irish Setter, Miniature Poodle, Old Danish Pointing Dog, Polish Lowland Sheepdog, Polish Tatra Sheepdog, Standard Poodle, Tibetan Terrier
Breed-specific 1
Gordon Setter, Irish Red Setter, Polish Lowland Sheepdog
Breed-specific 1 Details
Publication demonstrated strong association between mutation and disease in two breeds, Gordon setters and Irish setters. No functional evidence provided. Strong candidate gene. Downs et al, (2012) Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Animal Genetics, 44, 169-177.
Breed-specific 2
Standard Poodle, Tibetan Terrier
Breed-specific 2 Details
Unpublished. However, the research group at the AHT has indicated they have unpublished data indicating dogs of these breeds are homozygous for this mutation and is affected with the associated disease, which they would be willing to share with an expert panel.
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-4
GTP Disease Synonym
Progressive Retinal Atrophy, rcd-4
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutati
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
FCI Number
251
GTP Breed
Polish lowland sheepdog
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Certagen GmbH
GTP
GTP Name
Factor VII Deficiency
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
C2orf71
Mutation
c.3149_3150insC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-4
GTP Disease Synonym
Progressive Retinal Atrophy, rcd-4
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Mutation Comment
g.22907394_22907395insG
Nature of test
mutation test
FCI Number
251
GTP Breed
Polish lowland sheepdog
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
C17H2orf71
Mutation
c.3149_3150insC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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