Dental-skeletal-retinal anomaly in Italian Cane Corso

DSRA is a hereditary disease in the Cane Corso characterized by abnormalities in the development and growth of the skeleton and teeth, which are markedly brittle, discoloured, or translucent. The disease is associated with progressive retinal degeneration resulting in loss of vision.

The disease is caused by a mutation in the MIA3 gene, which encodes the transmembrane protein MIA SH3, which has an essential role in the export of collagen and other proteins. The identified variant XM_005640835.3:c.3822+3_3822+4del leads to skipping of two exons from the wild type transcript at a critical interval of 5.8 Mb. The MIA3 splicing defect results in almost complete loss of function of this gene.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

The inheritance pattern of this disease id autosomal recessive. It means that the disease will develop only in an individual that inherited the mutant allele from both parents (recessive homozygote). A heterozygote is an individual that inherited the mutant allele only from one parent, does not show any symptoms and is clinically healthy. However, it can pass the mutant allele to its offspring. If two heterozygous individuals are mated than 25% of the offspring will be healthy, 50% of the offspring will be carriers and 25 % inherit the mutant allele from both parents and will be affected.

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Reference:

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