Disproportionate dwarfism (PRKG2-related) - Dogo Argentino

What does this test analyse?

This genetic test analyses the PRKG2 c.1634+1G>T variant in the Dogo Argentino. The condition is known as disproportionate dwarfism, PRKG2-related dwarfism, chondrodysplasia, skeletal dysplasia and an inherited developmental disorder of bone and cartilage.

PRKG2 encodes cGMP-dependent protein kinase type 2, a protein important for regulation of chondrocytes and normal endochondral bone formation. The tested splice-site variant is expected to disrupt normal PRKG2 function. As a result, limb growth and growth plates can develop abnormally.

What does disproportionate dwarfism mean for the dog?

In this form of dwarfism, body proportions are altered. Affected puppies can develop clear growth delay, shortened limbs, abnormal forelimb position, carpus valgus, gait abnormalities, lameness and changes in the skull, neck or joints. Abnormalities can become visible during the first months of life.

This is not a desired short-legged breed type, but an inherited skeletal disorder that can affect mobility and quality of life. Because carriers usually have normal body conformation, the variant can remain present in a line without being visible in the parents.

Practical value of this test

This test gives Dogo Argentino breeders a clear way to manage a serious recessive skeletal variant before planning matings.

• The result distinguishes clear dogs, carriers and genetically affected dogs.
• Breeders can avoid carrier x carrier matings and directly reduce the risk of puppies with disproportionate dwarfism.
• Valuable carriers can remain in the population responsibly when combined only with clear partners.
• In puppies with poor growth, abnormal limb position or lameness, the test provides a concrete genetic explanation for follow-up.
• The result helps breeders and owners communicate clearly about inherited skeletal health, breeding plans and risk within the line.

Inheritance and interpretation

This form of dwarfism follows autosomal recessive inheritance. G/G means the tested variant was not detected. G/T means carrier: one copy does not cause this recessive form, but the dog can pass the variant on. T/T causes the tested PRKG2-related form of disproportionate dwarfism and is reported as a genetically affected result.