Osteochondrodysplasia (OCD)

LABOKLIN Service ID: 8877

A genetic variant of the sulfate transporter SLC13A1 has been found to be associated with Osteochondrodysplasia in the breed Miniature Poodle. The SLC13A1 transporter is responsible for the regulation of serum sulfate levels, therefore the genetic variant of the SLC13A1 gene causes a sulfate metabolic disorder. Since sulfation of proteoglycans in the cartilage is important for skeletal development, the genetic variant causes obvious stunted growth (dwarfism) and abnormal locomotion in Miniature Poodles.

Affected pups usually show first signs of the disease at the age of three weeks. They exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws and misshaped paws (similar to clubfoot). Because of the affected bones and joints, mobility is often restricted and arthritis is a common secondary disease.

Method	sequencing
Breed list	Miniature Poodle
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab