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Chondrodysplasia (CDPA) in dogs is associated with retrogene insertions in the fibroblast growth factor 4 (FGF4) gene, which plays a key role in skeletal development.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 18 |
| Mutation | a 5kb insertion containing a FGF4 retrogene |
| Tipo di Ereditarietà | Autosomico a dominanza incompleta |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Informazioni generali
Chondrodysplasia (CDPA) in dogs is associated with retrogene insertions in the fibroblast growth factor 4 (FGF4) gene, which plays a key role in skeletal development. Two known FGF4 retrogenes contribute to short-limbed phenotypes: an insertion on chromosome 18 (FGF4L1) and an insertion on chromosome 12 (FGF4L2).
This test analyzes the FGF4L1 retrogene insertion on chromosome 18, which is responsible for CDPA. This mutation alters signaling involved in bone and cartilage formation, leading to disproportionate dwarfism characterized by shortened limbs and a relatively long body.
Caratteristiche cliniche
Affected dogs exhibit disproportionately short limbs relative to body size, often resulting in a characteristic “long and low” body shape. Limb shortening can vary in severity and may be accompanied by mild angular limb deformities such as outward turning of the front legs. Despite the altered conformation, overall body length and size are typically normal. This condition primarily affects physical appearance and is generally not associated with severe health problems on its own, although it significantly influences skeletal structure and height.
Informazioni aggiuntive
Studies suggest that the effects of the two FGF4 retrogenes (FGF4L1 and FGF4L2) are additive. Breeds with the shortest limbs, such as the Dachshund and Corgi, often carry both variants at high frequencies.
Riferimenti
Pubmed ID: 19608863
Year published: 2009
Omia ID: 2542
Omia variant ID: 694