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Progressive Retinal Atrophy X-linked Type 1 (XLPRA)

Breed: Siberian Husky

Generic Phene Data

General

Disease Name
Progressive Retinal Atrophy X-linked Type 1 (XLPRA)
Disease Name 2
XLPRA 1
OMIA
831
Gene Name
RPGR
Mutation
c.1028_1032del
OMIM
300029
Disease Code
XLPRA 1
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
RP3, XLPRA1
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
Inheritance
X
Gene Name Text
retinitis pigmentosa GTPase regulator

Breed Specific Data

EVG Diagnostics

Link to GTP
Gene Name
RPGR
Mutation
c.1028_1032del
Nature of test
mutation test
GTP- or Breed-Specific Publications
Hum. Mol. Genet. (2002) 11 (9): 993-1003.

Genomia s.r.o

Link to GTP
GTP Disease Name
RP3, XLPRA1, XLPRA2
Gene Name
RPGR
Mutation
c.1028_1032del
Nature of test
mutation test

VHL Genetics

Link to GTP
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

OptiGen

Link to GTP
GTP
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

Genoscoper Laboratories Oy

Link to GTP
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

Embark

Link to GTP
GTP
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

CAG GmbH Center for Animal Genetics

Link to GTP
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

Antagene

Link to GTP
GTP
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
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