Enchondromatosis multiple Ollier (Enchondromatosis Ollier multiple type) type - Gen PTH1R.
Multiple enchondromatosis, 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 associated with the disease include skeletal malformations, discrepancy in limb length and chondrosarcoma malignant potential risk. The femur, tibia and ileum are the bones most commonly affected followed by phalanges, metacarpals and metatarsals. Less frequently the injury affects the facial bones, skull, spine, carpal and tarsal.
In most cases, this process is due to mutations in the PTHR1 gene, located on the short arm of chromosome 3 (3p22-p21.1), encoding a protein family 2 protein coupled receptors G. This protein is a receptor for parathyroid hormone (PTH) and PTHLH. The activity of this receptor is mediated by G proteins that activate adenylate cyclase and a system phosphatidylinositol-calcium.
Mutations in this gene, alter receptor affinity. It is believed that the presence of mutations in the PTHR1 gene may not be sufficient, by itself, to induce the development of enchondromas and that a combination of genetic events, germline and / or somatic, are necessary for the development of enchondromas.
Most cases of disease have been sporadic. In other cases, it is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with multiple enchondromatosis, by complete PCR amplification of exons PTHR1 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).