Skeletal dysplasia Eiken (Eiken skeletal dysplasia -EISD-) - Gen PTH1R.
Skeletal dysplasia of Eiken (EISD), also called Eiken syndrome, is a rare skeletal dysplasia characterized by multiple epiphyseal dysplasia with extremely delayed ossification. This delayed ossification mainly affects the epiphysis, pelvis, hands and feet, as well as abnormal modeling of the bones of the hands and feet, abnormal stiffness of the cartilage in the pelvis and slight growth retardation.
Skeletal dysplasia Eiken is due to mutations in the gene PTH1R, located on the short arm of chromosome 3 (3p22-p21.1). This gene encodes a protein which is a family member protein coupled receptors G2. This protein is a receptor for parathyroid hormone (PTH) and the like parathyroid hormone (PTHLH) hormone. The activity of this receptor is mediated by G proteins that activate adenylate cyclase and phosphatidylinositol-calcium.
This gene is abundantly expressed in the kidney and bone, which serves as a mediator of the regulation of calcium levels and dependent phosphorus PTH, and epiphyseal plate, which serves as a mediator of growth regulation and differentiation of chondrocytes dependent PTHrP. We have identified a truncation mutation in the cytoplasmic C-terminal tail of PTHR1 gene homozygous in affected individuals. Mutations in this gene, alter the ability of the receptor.
This disease 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 performed in IVAMI: in IVAMI perform detection of mutations associated with skeletal dysplasia Eiken (EISD), by complete PCR amplification of exons PTH1R 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).