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Progressive Retinal Atrophy generalized (gPRA)
Breed: Dutch Schapendoes
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
General
Disease Name
Progressive Retinal Atrophy generalized (gPRA)
OMIA
1521
Gene Name
CCDC66
Mutation
c.521_522InsA
Test Type
Genetic Disease/Disorder
Details
gPRA in Schapendoes is characterized by late onset and slow progression. Affected Schapendoes dogs appear normal when young, but develop gPRA between 2-5 years. Early in the disease, affected dogs are night-blind, progressing to full blindness within 2 years.
Details 2
gPRA is transmitted in an AR manner. gPRA in Schapendoes is characterized by late onset and slow progression. Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years. (Lippmann et al, 2007)
Published
Lippmann, T., Jonkisz, A., Dobosz, T., Petrasch-Parwez, E., Epplen, JT., Dekomien, G. : Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis 13:174-80, 2007. Pubmed reference: 17327822.
Published 2
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boevé, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics 11:163-74, 2010. Pubmed reference: 19777273. DOI: 10.1007/s10048-009-0223-z.
Published 3
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
Schapendoes
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy, Generalized
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
313
GTP Breed
Dutch Schapendoes
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
CCDC66
Mutation
c.521_522InsA
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