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Progressive Retinal Atrophy generalized (gPRA)

Breed: Dutch Schapendoes

Generic Phene Data

General

Disease Name
Progressive Retinal Atrophy generalized (gPRA)
Disease Name 2
gPRA
OMIA
1521
Gene Name
CCDC66
Mutation
c.521_522InsA
Disease Code
gPRA
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Progressive Retinal Atrophy
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
Inheritance
AR
Gene Name Text
coiled-coil domain containing 66

Breed Specific Data

CAG GmbH Center for Animal Genetics

Link to GTP
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

DNA My Dog

Link to GTP
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

Embark

Link to GTP
GTP
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

Genoscoper Laboratories Oy

Link to GTP
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

Laboklin Gmbh & Co. KG

Link to GTP
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

Orivet Genetic Pet Care

Link to GTP
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

VHL Genetics

Link to GTP
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

Wisdom Health (formerly Mars Veterinary)

Link to GTP
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
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