OMIA:001523-9615 : Oculoskeletal dysplasia 2 in Canis lupus familiaris (dog)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Species-specific symbol: osd2; drd2
Species-specific description: Oculoskeletal dysplasia is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts. A genetic test is available.
History: This disorder was first characterized in the Samoyed by Meyers et al (1983).
Inheritance: Obligate heterozygotes do not have skeletal lesions but may exhibit mild ocular lesions (Goldstein et al., 2010).
Molecular basis: The causative mutation is a 1,267 bp deletion that eliminates part of the 5’UTR, all of exon 1 and part of intron 1, which likely causes mRNA degradation and absence of COL9A2 protein (Goldstein et al., 2010).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Signs may be noticeable as early as 4 to 6 weeks of age (Goldstein et al., 2010). Affected dogs have 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, which subsequently develop curvature with varus/valgus deformities (Meyers et al., 1983). 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 (Goldstein et al., 2010).
Pathology: There is a range of ocular defects, but the most consistent findings are cortical equatorial cataracts and vitreal liquefaction (Goldstein et al, 2010).
Control: Parents and siblings of affected dogs should be tested. Breeding of affected or carrier dogs is not recommended.
Genetic testing: There is a test available to detect the causative mutation. Dogs cannot be reliably identified by clinical signs alone, so dogs suspected to have oculoskeletal dysplasia should be tested.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL9A2||collagen, type IX, alpha 2||Canis lupus familiaris||15||NC_051819.1 (2733779..2748412)||COL9A2||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|641||Samoyed||Oculoskeletal dysplasia 2||COL9A2||deletion, gross (>20)||Naturally occurring variant||15||a 1,267 bp deletion that eliminates part of the 5â€™UTR, all of exon 1 and part of intron 1||2010||20686772|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Ghilardi, S., Bagardi, M., Frattini, S., Barbariga, G.E., Brambilla, P.G., Minozzi, G., Polli, M. :|
|Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open 10:e77, 2023. Pubmed reference: 38028226. DOI: 10.1002/vro2.77.|
|2020||Iwabe, S., Dufour, V.L., Guzmán, J.M., Holle, D.M., Cohen, J.A., Beltran, W.A., Aguirre, G.D. :|
|Focal/multifocal and geographic retinal dysplasia in the dog-In vivo retinal microanatomy analyses. Vet Ophthalmol 23:292-304, 2020. Pubmed reference: 31746146. DOI: 10.1111/vop.12725.|
|2012||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.|
|2010||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.|
|1995||Acland, G.M., Aguirre, G.D. :|
|Oculoskeletal dysplasias in Samoyed and Labrador retriever dogs: nonallelic disorders akin to Stickler-like syndromes affecting humans 2nd international DOGMAP meeting, Cambridge , 1995.|
|1983||Meyers VN, Jezyk PF, Aguirre GD, Patterson DF :|
|Short-limbed dwarfism and ocular defects in the Samoyed dog. J Am Vet Med Assoc 183:975-979 , 1983. Pubmed reference: 12002589.|
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Vicki Meyers-Wallen on 13 Sep 2011
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