The Lost Gene. Syndrome Raine,Rare Autosomal Recessive Dysplasia Sclerotic Osteoarthritis,The New Mutation,FAM20C,c.957-1 G>A

      Аннотация: 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 investiga tions show increased bone density and osteosclerosis. The increased density of bones in the head and face causes a characteristic dysmorphic features that include a prominent and narrow forehead, proptosis, a small hypoplstic nose with depressed nasal bridge, mid-face hypoplasia, a triangular mouth, coanal atresia, and intracranial cerebral calsifica tion. 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 gene. The gene encodes a phosphor ylase-kinase which is responsible for biomineralization of the skeleton.

Ключевые слова: syndrome Raine, gene FAM20C, new mutations of Tabriz.