Syndrome Raine, A Rare Autosomal Recessive Dysplasia Sclerotic Osteoarthritis, the First Reports of a New Mutation of Tabriz City in IRAN

Abstract

Syndrome Raine, a severe skeletal dysplasia is usually caused the deaths of patients aged newborn. There are reports that patients with a milder form of the disease to live longer and have reached the age of a child. Radiological surveys show an increase in bone density generalized sclerosis and osteoarthritis. Bone density at the base of the skull, causing changes in the craniofacial skeleton, leading to specific dysmorphic signs in the figures. Symptoms of the disease include prominent forehead, proptosis, nasal root sunk, hypoplastic middle part of the face, hypoplastic nose, mouth, triangular, Atresia Cowan and intracranial calcification. Bone density in the disease so that the disease osteopetrosis is wrong. Raine syndrome is an autosomal recessive hereditary disease, which is caused by mutations in the gene is FAM20C. This gene encodes a protein that phosphorylase-kinase activity has been implicated in bio-mineralization. In this study, a patient with Raine syndrome is introduced from Iran. Based on available information, this patient is the first known case in Iran reported. Molecular analysis of the patient, a homozygous mutation new were identified. Already known about the patient's seventeenth in the world.