Disproportionate Dwarfism – Dogo Argentino
Kodas: H876
Short description
Disproportionate Dwarfism is a developmental disorder of the skeleton, which causes stunted growth and changes the body’s proportions.
General information
Disproportionate Dwarfism is a developmental disorder of the skeleton, which causes stunted growth and changes the body’s proportions. The variant of dwarfism analysed in this test, found in the Dogo Argentino, is caused by a recessive mutation to the gene PRKG2.
Specifications
| Breeds | |
|---|---|
| Gene | PRKG2 |
| Chromosome | 32 |
| Mutation | c.1634+1G>T |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies develop skeletal deformities that become apparent within the first few months of life. These abnormalities can include shortened limbs, carpus valgus (outward rotation of the forelimbs), hip dysplasia, and a shortened skull and neck. The stunted skeleton can cause gait abnormalities and lameness, and orthopaedic surgery may be required to correct the worst deformities.
References
Pubmed ID: 34680883
Year published: 2021
Omia ID: 1485
Omia variant ID:
Turnaround information
- 10 working days