Test Detail
Dental - skeletal - retinal anomaly (DSRA)
General · Dog
Hereditary multisystemic syndrome described in the Cane Corso that combines dental anomalies (fragile or translucent teeth, hypoplasia or missing teeth), disproportionate skeletal growth and progressive retinal degeneration. It is caused by a splicing variant in the MIA3 gene and is inherited in an autosomal recessive manner. A complementary test, not a substitute for clinical examination.
Incidence
Applicable breed: Cane Corso (Italian), in which the variant has been characterized. No published population carrier frequencies (limited data).
Breeder management
- Test Cane Corso breeding animals for the MIA3 c.3822+3_3822+4del variant before breeding
- Do not cross two carriers: 25 % affected homozygotes
- A carrier may be crossed with a clear animal; test the offspring intended for breeding
- Exclude affected animals and known carriers from breeding
- Complement with dental, orthopaedic and ophthalmological examination of the breeding animals
- Do not cross two carriers: 25 % affected homozygotes
- A carrier may be crossed with a clear animal; test the offspring intended for breeding
- Exclude affected animals and known carriers from breeding
- Complement with dental, orthopaedic and ophthalmological examination of the breeding animals
Specialist notes
Differential diagnosis with isolated retinal dysplasias, syndromic oligodontia and other hereditary cranioskeletal defects. The examination should combine dentistry, orthopaedics and ophthalmology. The MIA3 variant alters the export of collagen and other secreted proteins; a specific molecular test is available to confirm the status.
References
1. Christen M et al. 2021, MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes (Basel) 12(10):1497. PMID: 34680893. 2. Brown AT et al. 2024, Dental Abnormalities in Two Dental-Skeletal-Retinal Anomaly-Positive Cane Corso Dogs: A Case Series. J Vet Dent. PMID: 38146186. OMIA:002465-9615.