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Oculoskeletal Dysplasia 1

Breed: Labrador Retriever

Generic Phene Data

General

Disease Name
Oculoskeletal Dysplasia 1
OMIA
1522
Gene Name
COL9A3
Mutation
g.49,699,847insG
Mutation 2
c.10_11insG
OMIM
154780
Disease Code
OSD1
Test Type
Genetic Disease/Disorder
Details
Oculoskeletal Dysplasia (OSD) is unusual as in addition to the condition of retinal dysplasia (retinal folds), there is also a serious inherited skeletal (bone) malformations. This leads to dwarfism (shortened limbs) and blindness at an early age - generally from the retina not forming correctly and either partial or full retinal detachment and cataracts. Please note that tests for OSD only identify the risks for this specific disease, and not all forms of retinal dyslplasia (RD). The OSD mutation does not appear to be a ?simple? recessive inheritance. Carriers typically show symptoms of RD, sometimes called ?mild? or partial expression of OSD in the Carrier. Two copies of the OSD mutation (i.e. "affected") can lead to full expression of OSD?i.e. dwarfism and blindness. It is thought that OSD has an autosomal recessive inheritance, but with incomplete penetrance. It is especially important for breeding stock for this disease to follow any breeding guidelines with test results very carefully and/or seek professional advice.
Details 2
It is currently thought that the causative mutation leads to collagen absence or deficiency in cartilage and ocular collagen, with a larger effect in vitreous and retinal tissue than in the limbs (Goldstein et al., 2010). Signs may be noticeable as early as 4 to 6 weeks of age. Affected dogs also have short-limbed dwarfism and vitreous dysplasia. In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia. There is a range of ocular defects, but the most consistent findings are cortical equatorial cataracts and vitreal liquefaction. Histologic lesions in the growth plates included disorganization of cellular columns with abnormal extent of calcification, great variability in chrondrocyte shape, and premature cellular condensation in the maturation zone. Associated ophthalmic lesions include retinal detachment and cataracts.There is a test available to detect the causative mutation. Affected dogs are not reliably identified by clinical signs alone, so suspected dogs should be tested. Dogs having mild ocular lesions may be carriers and should be tested.
Patents/ Licences
Patent: OptiGen - US, AU, CA. (please note that patent and licensing laws and coverage vary by country)
Published
Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, TN., Pearce-Kelling, SE., Johnson, J., Aguirre, GD., Acland, GM. : COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome 21:398-408, 2010. Pubmed reference: 20686772. DOI: 10.1007/s00335-010-9276-4.
Published 2
Farnum, C.E., Jones, K., Riis, R., Wilsman, N.J. : Ocular-Chondrodysplasia in Labrador Retriever Dogs - A Morphometric and Electron Microscopical Analysis Calcified Tissue International 50:564-572, 1992. Pubmed reference: 1525714.
Body/System/Process
Eye
Inheritance
ARIP
Gene Name Text
collagen, type IX, alpha 3

Breed Specific Data

DNA My Dog

Link to GTP
GTP Disease Name
Retinal Dysplasia, RD, drd1
Gene Name
COL9A3
Mutation
g.49,699,847insG
Nature of test
mutation test

VHL Genetics

Link to GTP
GTP Disease Name
Retinal Dysplasia, RD, drd1
Gene Name
COL9A3
Mutation
g.49,699,847insG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, TN., Pearce-Kelling, SE., Johnson, J., Aguirre, GD., Acland, GM. : COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplas
Application in the Breed
short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna
Inheritance
AR

Paw Print Genetics

Link to GTP
GTP Disease Name
Retinal Dysplasia, RD, drd1
Gene Name
COL9A3
Mutation
g.49,699,847insG
Nature of test
mutation test

Orivet Genetic Pet Care

Link to GTP
GTP Disease Name
Retinal Dysplasia, RD, drd1
Gene Name
COL9A3
Mutation
g.49,699,847insG
Nature of test
mutation test

OptiGen

Link to GTP
GTP
GTP Disease Name
Retinal Dysplasia, RD, drd1
Gene Name
COL9A3
Mutation
g.49,699,847insG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, TN., Pearce-Kelling, SE., Johnson, J., Aguirre, GD., Acland, GM. : COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplas
Application in the Breed
short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna
Inheritance
AR

Genomia s.r.o

Link to GTP
GTP Disease Name
Retinal Dysplasia, RD, drd1
Gene Name
COL9A3
Mutation
c.10_11insG
Nature of test
mutation test

Embark

Link to GTP
GTP
GTP Disease Name
Retinal Dysplasia, RD, drd1
Gene Name
COL9A3
Mutation
g.49,699,847insG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, TN., Pearce-Kelling, SE., Johnson, J., Aguirre, GD., Acland, GM. : COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplas
Application in the Breed
short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna
Inheritance
AR
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