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Dental-Skeletal-Retinal Anomaly
| Acronym: | DSRA |
| Gene: | MIA3 |
| Mutation: | c.3822+3_3822+4del |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dental-skeletal-retinal anomaly (DSRA) is a complex genetic disorder that belongs to a group of inherited skeletal dysplasias disorders associated with abnormalities in the development, growth, and homeostasis of the skeleton. Skeletal dysplasias have been previously described in humans and mice, but cases of combined skeletal and ocular anomalies have been reported in several dog breeds, including Cane Corso dogs. Affected dogs show signs affecting their teeth, skeletal morphology, and vision and they usually include discolored, translucent teeth, disproportionate growth, and progressive retinal degeneration resulting in vision loss. The cause of DSRA in dogs is a variant in the MIA3 gene that encodes the MIA SH3 domain ER export factor 3, which has an essential role in the export of collagen and other secreted proteins needed for bone mineralization, and skin and tissue assembly.
This form of complex skeletal disorder found in Cane Corso dogs is inherited as an autosomal recessive trait, requiring both copies of the mutated gene for the disease to develop. That dogs with only one mutated gene copy will not develop the disease, but may potentially pass the mutation to their offspring. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding by the proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Christen, M., Booij-Vrieling, H., Oksa-Minalto, J., de Vries, C., Kehl, A., Jagannathan, V., Leeb, T. (2021). MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes, 12(10), 1497. https://doi.org/10.3390/genes12101497