Progressive Retinal Atrophy X-linked Type 1 (XLPRA)
            Breed: Siberian Husky
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Progressive Retinal Atrophy X-linked Type 1 (XLPRA)
            
        
        
        
            OMIA
        
    
    
            831
            
        
        
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            XL-PRA is a "late-onset" form of PRA, first clinical signs at 3-5 years. May be detectable by an ophthalmologist as early as 5 months. Signs include loss of night vision followed some time later by loss of day vision leading to blindness. Owners report dog's eyes seem to have more "shine" and the dog develops "tunnel vision" and dilated pupils. The X-linked inheritance means the risks of developing the disease effect males and females differently. Females who inherit the defective gene from one parent and a normal gene from another parent (carriers) won't be affected, but may have subtle defects that don't normally impact vision. Male pups who inherit the defective gene from the dams will be effected (there aren't male "carriers") Special breeding advice should be sought, if you are unfamiliar with X-link disease inheritance.
            
        
        
        
            Details 2
        
    
    
            XL-PRA is a "late-onset" form of PRA, first clinical signs at 3-5 years. May be detectable by an ophthalmologist as early as 5 months. Signs include loss of night vision followed some time later by loss of day vision leading to blindness. Owners report dog's eyes seem to have more "shine" and the dog develops "tunnel vision" and dilated pupils. The X-linked inheritance means the risks of developing the disease effect males and females differently. Females who inherit the defective gene from one parent and a normal gene from another parent (carriers) won't be affected, but may have subtle defects that don't normally impact vision. Male pups who inherit the defective gene from the dams will be effected (there aren't male "carriers") Special breeding advice should be sought, if you are unfamiliar with X-link disease inheritance.
            
        
        
        
            Published
        
    
    
            Zangerl, B., Zhang, Q., Acland, G.M., Aguirre, G.D. : Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered 93:70-3, 2002. Pubmed reference: 12011183.
            
        
        
        
            Published 2
        
    
    
            Zhang, Q., Acland, G.M., Zangerl, B., Johnson, J.L., Mao, Z., Zeiss, C.J., Ostrander, E.A., Aguirre, G.D. : Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals. Invest Ophthalmol Vis Sci 42:2466-71, 2001. Pubmed reference: 11581184.
            
        
        
        
            Published 3
        
    
    
            Appelbaum, T., Becker, D., Santana, E., Aguirre, G.D. : Molecular studies of phenotype variation in canine RPGR-XLPRA1. Mol Vis 22:319-31, 2016. Pubmed reference: 27122963.
            
        
        
        
            Body/System/Process
        
    
    
            Eye
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            X
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Siberian Huskey, Samoyed
            
        
        HSP Test-Specific Data
Embark
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Embark
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            RP3, XLPRA1, XLPRA2
            
        
        
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            GTP- or Breed-Specific Publications
        
    
    
            Appelbaum, T., Becker, D., Santana, E., Aguirre, G.D. : Molecular studies of phenotype variation in canine RPGR-XLPRA1. Mol Vis 22:319-31, 2016. Pubmed reference: 27122963.
            
        
        
        
            Application in the Breed
        
    
    
            Female offspring of a carrier female should be genetically tested (XX or XXPRA). No breeding of carrier females (XXPRA). Affected males (XPRAY) only bred to normal females. Difficulty seeing in low light to complete blindness (3-5 years of age)
            
        
        
        
            Inheritance
        
    
    
            X
            
        
        
        
            FCI Number
        
    
    
            270
            
        
        
        
            GTP Breed
        
    
    
            Siberian Husky
            
        
        CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        Progènes-ADN
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Progenes ADN
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        Antagene
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Antagene
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            RP3, XLPRA1, XLPRA2
            
        
        
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            GTP- or Breed-Specific Publications
        
    
    
            Appelbaum, T., Becker, D., Santana, E., Aguirre, G.D. : Molecular studies of phenotype variation in canine RPGR-XLPRA1. Mol Vis 22:319-31, 2016. Pubmed reference: 27122963.
            
        
        
        
            Application in the Breed
        
    
    
            Female offspring of a carrier female should be genetically tested (XX or XXPRA). No breeding of carrier females (XXPRA). Affected males (XPRAY) only bred to normal females. Difficulty seeing in low light to complete blindness (3-5 years of age)
            
        
        
        
            Inheritance
        
    
    
            X
            
        
        
        
            FCI Number
        
    
    
            270
            
        
        
        
            GTP Breed
        
    
    
            Siberian Husky
            
        
        PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            RP3, XLPRA1, XLPRA2
            
        
        
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.3416_3420del
            
        
        
        
            Mutation Comment
        
    
    
            g.33126490_33126494del
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            270
            
        
        
        
            GTP Breed
        
    
    
            Siberian Husky
            
        
        BioBank AS
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            BioBank AS
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        VHL Genetics/ Combibreed
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VHL Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
        Zoolyx
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Zoolyx
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RPGR
            
        
        
        
            Mutation
        
    
    
            c.1028_1032del
            
        
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