Ollier disease ... (Ollier disease) - Genes IDH1 or IDH2.
Ollier disease, also known as multiple enchondromatosis Ollier type, is a rare disorder characterized by the presence of multiple endochondromas with a skewed distribution. Enchondromas are usually benign, cartilaginous tumors that develop common intraosseous points near the epiphyseal growth plate cartilage. They may occur as solitary lesions or multiple lesions.
Signs and symptoms of Ollier disease may be present at birth, but generally do not appear until 5 years of dad. These include skeletal malformations, discrepancy in limb length and potential risk of malignant chondrosarcoma. The femur and tibia bones are affected more often followed by phalanges, metacarpals and metatarsals. Less frequently the injury affects the facial bones, skull, spine, carpal and tarsal. Enchondromas can lead to severe bone deformities, limb shortening, and fractures. Individuals with Ollier's disease also have an increased risk of other cancers such as ovarian or liver cancer. People with Ollier's disease usually have a normal life expectancy and intelligence is not affected. The extent of their physical impairment depends on your skeletal deformities, but in most cases have no significant limitations on their activities. A related condition called Maffucci syndrome also involves multiple enchondromas but is distinguished by the presence of masses of red or purple skin due to hemangiomas.
In most people with disease Ollier, this is due to mutations in the gene IDH1, located on the long arm of chromosome 2 (2q33.3) or IDH2 gene, located on the long arm of chromosome 15 (15q26 .1). These genes encode enzymes isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert isocitrate to 2-ketoglutarate. This reaction also produces NADPH, which is necessary for many cellular processes and helps protect cells from reactive oxygen molecules.
Genetic mutations that cause IDH1 and IDH2 Ollier disease are somatic mutations with gain of function and is believed to occur in early development, resulting in mosaicism. These mutations have been found in cells enchondromas in most of those affected, but the relationship between mutations and signs and symptoms of the disease is not well understood. It is believed that mutations in IDH1 and IDH2 result encoding an enzyme with a new abnormal function. Mutations in other genes may also be responsible for some cases of Ollier disease.
Ollier's disease is not hereditary, but is due somatic mutations that occur during the life of a person. A somatic mutation in a single cell. As the cell continues to grow and divide, cells derived therefrom also have the same mutation. Ollier's disease, it is believed that the mutation occurs in a cell during development before birth. Cells arising from abnormal cell that have the mutation, while other cells of the organism. This situation is called mosaicism.
Tests performed in IVAMI: in IVAMI perform detection of mutations associated with disease Ollier, by complete PCR amplification of the exons of IDH1 and IDH2, respectively, and subsequent sequencing genes.
Samples recommended: Being somatic, no germline mutations should be sent biopsies of affected tissues.