Gnatodiafisaria dysplasia (Gnathodiaphyseal dysplasia) - Gen Year5.
The gnatodiafisaria dysplasia is a disease that affects the bones. Affected individuals have osteopenia, which causes bones are unusually fragile. As a result, affected individuals typically have multiple bone fractures in childhood, often after a minor trauma or no apparent reason.
Signs and symptoms associated with gnatodiafisaria diaphyseal dysplasia may include sclerosis, inclination of the long bones in the jaw osteomyelitis, osteonecrosis of the jaw and cementoseas injuries. When the disease was first described, a variation of osteogenesis imperfecta, also it characterized by frequent bone fractures considered. However, currently the gnatodiafisaria dysplasia is considered a separate disease. Unlike osteogenesis imperfecta, fractures in gnatodiafisaria dysplasia normally heal without causing deformity or loss of height.
This process is due to mutations in the gene Year5, located on the short arm of chromosome 11 (11p14.3), encoding anoctamina-5 protein. This protein is located within the endoplasmic reticulum membrane, involved in coding, processing and transport of proteins. It is believed that this protein acts as a channel, allowing chloride ions to flow between the inside and outside of the endoplasmic reticulum. Flow regulation chloride within muscle cells plays a role in controlling muscle contraction and relaxation. The anoctamina-5 protein is also found in other cells, including cardiac muscle cells and bone cells. It is believed that anoctamina-5 protein may be important for the development of muscles and bones before birth.
Have identified at least three mutations in gene Year5 gnatodiafisaria people with dysplasia. These genetic changes in anoctamina substituted amino-5 protein. It is not clear how these mutations lead to signs and symptoms of gnatodiafisaria dysplasia, or why mainly affect the bones, while other genetic mutations cause Year5 muscle disorders. It is likely that mutations may affect the way cells process calcium, an important mineral growth and skeletal development.
The gnatodiafisaria dysplasia is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to express the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with gnatodiafisaria dysplasia, by complete PCR amplification of exons Year5 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).