Wagner syndrome ... (Wagner syndrome) - Gen VCAN
Wagner syndrome is an inherited disorder that causes progressive loss of vision. Eye problems leading to loss of vision, usually beginning in childhood, although impaired vision may not be immediately apparent. In people with Wagner syndrome, retina thins and can detach (detached retina). The blood vessels in the choroid found in the retina may also be abnormal. Some people with Wagner syndrome have blurred vision due to an ectopic fovea, an abnormality in which part of the retina responsible for central vision is misplaced. Furthermore, the vitreous humor of the eye becomes watery. People with Wagner syndrome develop cataracts, can suffer from myopia, progressive night blindness, or narrowing your field of view, which can vary from almost normal to complete loss of vision in both eyes vision.
This process is due to mutations in the gene VCAN, located on the long (q) arm of chromosome 5 (5q14.3), encoding a protein called versican. This protein is found in the extracellular matrix in the intercellular spaces. The versican protein interacts with many of these proteins and molecules to facilitate the extracellular matrix structure and ensure stability. Within the eye, the versican protein interacts with other proteins to maintain the structure and consistency of vitreous, helping to regulate cell growth and division, adhesion between cells, and cell movement. Four different versions (isoforms) of the versican protein produced from the gene VCAN. These isoforms (called V0, V1, V2, and V3) vary depending on the size and location within the body. We found at least 11 mutations in the gene VCAN.
This condition is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to cause the disorder.
Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome Wagner, by complete PCR amplification of the exons of the gene VCAN 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).