Affected gene: MIA3
Transmission: Autosomal recessive
Mutation: CanFam3.1 38 g.16920529_16920530del c.3822+3_3822+4del
OMIA link: 002465-9615

Appropriate breeds for testing: Cane Corso

Symptoms:
Dogs with this disease develop a dental-skeletal-retinal abnormality (DSRA), characterized by brittle, discolored, translucent teeth, disproportionate growth, and progressive retinal degeneration leading to vision loss.

Reference:
Christen, M., Booij-Vrieling, H., Oksa-Minalto, J., de Vries, C., Kehl, A., Jagannathan, V., Leeb, T.: MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes (Basel) 12:1497, 2021. Pubmed reference: 34680893. DOI: 10.3390/genes12101497.