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CCN6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CCN6 gene

The CCN6 gene provides instructions for a protein involved in the growth and maintenance of cartilage and bone, which is essential for healthy joint function.

Normal Function

The CCN6 gene provides instructions for making a protein that appears to be involved in bone growth and the maintenance of cartilage, which covers and protects the ends of bones. The function of the CCN6 protein is not well understood. It is part of a family of proteins that are involved in the growth and maintenance of connective tissues, such as bone, cartilage, and blood vessels. The CCN6 protein is made in cells called chondrocytes, which produce and maintain cartilage, and is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. CCN6 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components.

Health Conditions Related to Genetic Changes

Progressive pseudorheumatoid dysplasia

Mutations in the CCN6 gene cause progressive pseudorheumatoid dysplasia (PPRD), which is a condition that causes stiffness and pain in the joints of the hands, hips, knees, and spine. The joint problems worsen over time, and movement in the joints becomes limited. Most of the mutations involved in this condition lead to production of an abnormally short CCN6 protein that is probably nonfunctional. Other mutations change single protein building blocks (amino acids) in the protein. Loss of CCN6 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the joint problems in PPRD.

Juvenile idiopathic arthritis

MedlinePlus Genetics provides information about Juvenile idiopathic arthritis.

Frequently Asked Questions

While both conditions cause joint pain and stiffness, PPRD is a genetic disorder caused by CCN6 mutations, whereas JIA is an autoimmune condition. In PPRD, joint inflammation is typically mild or absent initially, and the primary issue is progressive joint stiffness and deformity due to cartilage and bone abnormalities. JIA usually presents with significant inflammation, swelling, and warmth. Diagnosis of PPRD often relies on genetic testing for CCN6 variants and imaging showing characteristic bone changes, while JIA is diagnosed clinically and through inflammatory markers.
There is currently no cure for PPRD. Treatment is supportive and aims to maintain joint function and quality of life. This includes physical therapy to preserve mobility, pain management with non-steroidal anti-inflammatory drugs (NSAIDs), and orthopedic interventions such as joint replacement surgery in severe cases. Regular monitoring by a rheumatologist and orthopedic specialist is essential to manage progression.
Early signs of PPRD often appear in early childhood and may include stiffness in the hips, knees, or spine, a waddling gait, and limited range of motion. Unlike inflammatory arthritis, the joints may not be visibly swollen or red. Parents should seek evaluation if a child has persistent joint stiffness that worsens over time, difficulty with daily activities like climbing stairs or running, or if there is a family history of similar joint issues.
CCN6 mutations disrupt normal cartilage maintenance and bone growth, leading to skeletal abnormalities. Beyond joint stiffness, individuals with PPRD may develop short stature, broad and flat feet, and specific bone changes visible on X-rays, such as irregularities in the hip joints and spine. These skeletal changes can contribute to chronic pain and mobility limitations as the condition progresses.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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