Crouzon syndrome ... (Crouzon syndrome) - Gen FGFR2.
Crouzon syndrome is a genetic disease characterized by craniosynostosis. In this alteration premature fusion of the skull bones, preventing the skull normally grow, affecting the shape of the head and face, so many of the features of Crouzon syndrome they are due to premature melting occurs of the skull bones. Abnormal growth of these bones leads to the whole set, bulging eyes and vision problems due to shallow eye sockets, strabismus, an aquiline nose and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, sometimes accompanied by narrow ear canals. Some people affected with cleft lip and cleft palate. The severity of these signs and symptoms varies among those affected. Generally, affected individuals have normal intelligence.
This process is due to mutations in the FGFR2 gene, located on the long arm of chromosome 10 (10q26). This gene encodes a protein called receptor 2 fibroblast growth factor. This protein is part of a family of receptors of fibroblast growth factor that share similar structures and functions. These proteins play a role in several important cellular processes, including the regulation of growth and cell division, determining the cell type, the formation of blood vessels, healing of wounds and development before birth. The FGFR2 protein is placed across the cell membrane, so that one end of the protein remains on the outer surface of the cell. This positioning allows the protein interacts with specific growth factors outside the cell and receives signals that help the cell to respond to its environment. The FGFR2 protein plays an important role in bone growth particularly during embryonic development. There are several isoforms of FGFR2 protein. Specific patterns of these isoforms are found in the tissues of the body, and these patterns may change over growth and development.
They have identified at least 40 mutations in FGFR2 gene associated with Crouzon syndrome. Most nucleotide mutations change in the FGFR2 gene. They have also been identified insertions and deletions of a small number of nucleotides responsible for the disease. These mutations appear overactivating FGFR2 signaling FGFR2 protein, which promotes early bone fusion in the skull.
Crouzon syndrome is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to express the disease. In some cases, an affected person inherits the mutation from an affected parent. Other cases are due to new mutations in the gene and occur in people with no history of disease in your family.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Crouzon syndrome, by complete PCR amplification of the exons of FGFR2 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).