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Oculoskeletal Dysplasia 2 (OSD2) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 15 |
| Mutation | 1,267 bp deletion affecting exon 1 and COL3 domain |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | osd2; drd2; RD OSD 2 |
Informations générales
Oculoskeletal Dysplasia 2 (OSD2) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss. It is caused by a recessive mutation in the collagen, type IX, alpha 2 (COL9A2) gene and has been identified specifically in Samoyed dogs. COL9A2 plays an essential role in healthy cartilage and eye development. Therefore, a mutation in this gene can lead to skeletal and ocular abnormalities.
Caractéristiques cliniques
Affected dogs show skeletal abnormailites that include disproportionate dwarfism (short limbs relative to body size), shortened and deformed long bones, joint laxity or pain, early-onset osteoarthritis and sometimes also spinal deformities.
Ocular abnormalities can also be observed. One of these abnormalities is retinal dysplasia (abnormal development of the retina), which can lead to detached retina, impaired vision, or even blindness. Furthermore, affected dogs can show changes in the jelly-like part of the eye (vitreous degeneration) and cataracts.
Additional Information
Références
Pubmed ID: 20686772
Year published: 2010
Omia ID: 1523
Omia variant ID: 641