Genetic Test
The ITGA10 (Integrin Alpha 10) gene encodes an alpha subunit of integrin, primarily expressed in cartilage tissue.
It mediates binding to type II collagen and plays a crucial role in chondrocyte proliferation and differentiation.
Missense or nonsense mutations in ITGA10 result in absent or dysfunctional integrin α10 protein, impairing cartilage formation.
Disease Description
Chondrodysplasia caused by ITGA10 mutations is a congenital developmental disorder of cartilage and the skeletal system.
Affected dogs typically present with shortened and disproportionate limbs (dwarfism).
Loss of integrin α10 function disrupts the interaction between chondrocytes and the extracellular matrix (ECM), leading to abnormal cartilage formation and ossification in the growth plates (physes).
Clinical signs may include malformed limbs from an early age, reduced mobility, and joint problems.
