遺伝症候群と遺伝子治療のジャーナル
オープンアクセス

概要

Assessment of Mutation Genetics in FAM20A and FAM20C Genes Induction Syndrome Raine with New Mutation c.977-1T>A

Shahin Asadi

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. Raine syndrome is a very rare hereditary lethal skeletal dysplasia. There are few reports of milder phenotypes in which patients survived until late childhood. Radiologic investigations show increased bone density and osteosclerosis. The increased density of bones in the head and face causes a characteristic dysmorphic feature that include a prominent and narrow forehead, proptosis, a small hypoplastic nose with depressed nasal bridge, mid-face hypoplasia, a triangular mouth, coanal atresia, and intracranial cerebral classification. Osteosclerosis is severe enough and could be mistaken with osteopetrosis. Raine syndrome is a hereditary autosomal recessive disease. Its cause is a homozygous or compound heterozygous mutation in the FAM20C and FAM20A gene. The gene encodes a phosphorylase-kinase which is responsible for biomineralization of the skeleton. 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 genes is FAM20A and FAM20C. This gene encodes a protein that phosphorylase-kinase activity has been implicated in bio-mineralization. In this study, a patient with Raine syndrome. Molecular analysis of the patient, a homozygous mutation new were identified. Already known about the patient’s Eighteenth in the world.