Deutsch
Hrvatski
Русский
Português
Disproportionate Dwarfism In Dogo Argentino
| Acronym: | DDDA |
| Gene: | PRKG2 |
| Mutation: | c.1634+1G>T |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: | Sanger sequencing |
Genetics and characteristics
Disproportionate dwarfism is a genetic disorder that belongs to a heterogeneous group of skeletal dysplasia disorders characterized by the abnormal growth, development, and remodeling of bones and cartilage. In medical terminology, dwarfism is used to denote short stature and is characterized by malformations in limb conformation, body length, and height, as well as skull morphology. It has been identified in humans and a lot of other animals including dogs. Some alterations in limb length, which lead to disproportionate dwarfism, are a result of positive selection in some dog breeds, but the form of the disease found in Dogo Argentino dogs is undesired and is associated with health problems. The cause of this specific type of dwarfism is a loss-of-function mutation in the PRKG2 gene that encodes a protein important for the regulation of chondrocyte differentiation.
Dwarfism found in Dogo Argentino dogs is inherited as an autosomal recessive trait meaning both copies of the mutated gene are required for the disease to develop. 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:
Rudd Garces, G., Turba, M. E., Muracchini, M., Diana, A., Jagannathan, V., Gentilini, F., Leeb, T. (2021). PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism. Genes, 12(10), 1489. https://doi.org/10.3390/genes12101489