Dental-Skeletal-Retinal Anomaly (DSRA)
Kodas: H974
Short description
Dental-Skeletal-Retinal Anomaly (DSRA) is a developmental disorder found in the Cane Corso, which causes brittle teeth, disproportionate growth and vision loss.
General information
Dental-Skeletal-Retinal Anomaly (DSRA) is a developmental disorder found in the Cane Corso, which causes brittle teeth, disproportionate growth and vision loss. The disorder is caused by a recessive mutation to the gene MIA3.
Specifications
| Breeds | |
|---|---|
| Gene | MIA3 |
| Chromosome | 38 |
| Mutation | c.3822+3_3822+4del |
| Organ | Digestive System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | DSRA |
Clinical features
Affected puppies develop distinctively translucent, brown-discoloured teeth. They also grow shorter than their littermates, with disproportionately short and crooked forelegs. The disease also results in progressive retinal atrophy (PRA): degradation of the retinas resulting in a gradual loss of vision.
References
Pubmed ID: 34680893
Year published: 2021
Omia ID: 2465
Omia variant ID:
Turnaround information
- 10 working days