Dwarfism in the Dogo Argentino

Dwarfism or disproportionate dwarfism in Argentine Dogos is a disease characterized by disproportionate stunted growth—i.e., disproportionately short limbs and changes in body structure. The disease causes slowed or improper cartilage maturation and premature closure of the growth plates. Symptoms are noticeable as early as two months of age and include gait abnormalities, shortened limbs, angular deformities of the front limbs, and a disproportionately large head with possible skull deformities.

In the Dogo Argentino, this defect is caused by a mutation c.1634+1G>T in the PRKG2 gene. The PRKG2 gene encodes a cGMP-dependent protein kinase that controls the proper maturation of cartilage cells during bone growth.

The mutation is inherited in an autosomal recessive manner. This means that the disease only develops in individuals who inherit the mutated gene from both parents. Carriers of the mutated gene are of normal height, but they pass the mutation on to their offspring. In the case of mating two heterozygous individuals, theoretically 25% of the offspring will be "pure" (without the mutation), 50% will be carriers, and 25% will inherit the mutated gene from both parents and will therefore be affected by this defect.

Genetic testing can clearly reveal an animal's genotype and is a useful tool for breeders to prevent the unintentional breeding of affected puppies.

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References:

Rudd Garces, G., Turba, M.E., Muracchini, M., Diana, A., Jagannathan, V., Gentilini, F., Leeb, T. : PRKG2 splice site variant in Dogo Argentino dogs with disproportionate dwarfism. Genes (Basel) 12:1489, 2021. Pubmed reference: 34680883