SNP Shot: Genomic Insights

Czech dysplasia is a genetic disorder impacting both joint function and skeletal growth. Individuals with this condition experience joint pain, specifically osteoarthritis, starting in their teenage years or early adulthood. This pain primarily affects the hips, knees, shoulders, and spine, potentially leading to mobility issues. A common characteristic is shortened third and fourth toes, giving the appearance of elongated first and second toes. Additionally, individuals may exhibit flattened vertebral bones (platyspondyly) or abnormal spinal curvatures, including kyphoscoliosis (a combination of rounded upper back and sideways spinal curvature). Some individuals with Czech dysplasia also develop progressive hearing loss.

Inheritance:

Czech dysplasia follows an autosomal dominant inheritance pattern. This means that possessing just one copy of the mutated COL2A1 gene within each cell is enough to cause the disorder. To date, all identified cases of Czech dysplasia involve inheriting the mutation from a parent who also has the condition.