Dental Skeletal Retinal Anomaly (DSRA)
DSRA
Dental Skeletal Retinal Anomaly (DSRA) is a hereditary disease in the Cane Corso breed. Symptoms of the disease can include dental imperfections such as smaller opaque teeth or dental fractures and abnormal skeletal development. Affected puppies are typically smaller than their littermates with short angularly bent limbs and translucent brittle teeth. Affected adults can exhibit discolored pink or brown teeth and defects in the enamel. The disease is also associated with progressive retinal degeneration, which can ultimately result in vision loss.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Dental Skeletal Retinal Anomaly nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Dental Skeletal Retinal Anomaly but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are likely to develop Dental Skeletal Retinal Anomaly.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
MIA3
Chromosome
Ch. 38
Mutation
16,920,529_16,920,530: AT deletion
Publication:
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. 2021; 12(10):1497. [PubMed: 34680893]
