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
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