Overview
The disease is characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss.
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The disease is characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss.
The 2bd bp deletion in the gene called MIA3 that causes Dental-Skeletal-Retinal Anomaly in Italian Cane Corso is autosomal recessive. This means that dogs that carry two copies of the mutation (homozygotes) will almost certainly develop General disease during their lives. Dogs that carry a single copy of the mutation (also known as carriers or heterozygotes) will not develop General disease as a result of the MIA3 mutation, but they will pass the mutation onto about half of any offspring they have. Breeding dogs that will not develop General disease should be the breeder’s priority, with a reduction in mutation frequency within the whole breed being the secondary, longer-term target.
Carriers can be bred from safely, provided they are mated to a dog that has also been tested and is clear of the MIA3 mutation (i.e. carry no copies of the mutation). If a carrier is mated to a clear dog approximately half of the resulting puppies will also be carriers, so should be tested themselves prior to breeding. Breeding carriers to tested, clear dogs is safe, in terms of avoiding dogs affected with Dental-Skeletal-Retinal Anomaly, and will help to maintain the genetic diversity of a breed. It is therefore encouraged, particularly in the first few generations following the availability of a new genetic test, so that other desirable characteristics and traits can be preserved before the frequency of the disease mutation within the breed is gradually reduced.
| Gene | MIA3 |
|---|---|
| Variant | c.3822+3_3822+4del |
| Assay Type | Variant Specific |
| Inheritance | Autosomal Recessive |
