Oculoskeletal Dysplasia 2 (OSD2) / Retinal Dysplasia (RD) – Samoyed
Kodas: H426
Short description
Oculoskeletal Dysplasia 2 (OSD2) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | COL9A2 |
| Chromosome | 15 |
| Mutation | 1,267 bp deletion affecting exon 1 and COL3 domain |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | osd2; drd2; RD OSD 2 |
Clinical features
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.
References
Pubmed ID: 20686772
Year published: 2010
Omia ID: 1523
Omia variant ID:
Turnaround information
- 10 working days