Czech dysplasia (Czech dysplasia) - Gen COL2A1.

Czech dysplasia is an inherited disease that affects joint function and bone development. People with this disease have osteoarthritis which usually begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders and spine, which can impair mobility. Often, people with Czech dysplasia have the bones of his third and fourth finger short foot, which makes the first two fingers seem unusually long. Other signs and symptoms of the disease may include platyspondyly, kyphoscoliosis and progressive hearing loss.

This disease is due to a mutation in the COL2A1 gene, located on the long arm of chromosome 12 (12q13.11). This gene encodes a component of collagen type II, called the pro-alpha1 (II) chain. This type of collagen is found primarily in the vitreous and cartilage. Most cartilage is later converted to bone. Collagen type II is essential for normal bone development and other connective tissues that form the support frame body. Collagen type II is also part of the vitreous, the inner ear, and the nucleus pulposus.

COL2A1 gene mutation resulting in Czech dysplasia, replacing the amino acid arginine by the amino acid cysteine (R275C or Arg275Cys) in pro-alpha1 chain (II). Although the effect of the mutation is unknown, it may interfere with the ability of the collagen chain to form a procollagen molecule. Procollagen molecules needed to produce mature collagen type II. An interruption in the production of collagen type II can harm the development of bone and cartilage, leading to the signs and symptoms of Czech dysplasia.

Czech dysplasia is inherited as an autosomal dominant, which means that a copy of the COL2A1 gene altered in each cell is sufficient to express the disease. All known individuals with Czech dysplasia inherited the mutation from a parent with the disease.

Tests in IVAMI: in IVAMI perform detection of mutations associated with Czech dysplasia, by complete PCR amplification of exons COL2A1 gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).