title: Raine syndrome: an overview.
abstract: Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775]. Its prevalence is estimated to be < 1/1,000,000. Although it was originally thought always to be lethal, there have now been six reports of patients surviving into childhood and this phenotype is still being defined. The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of skull and long bones. Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be admitted at a neonatal intensive care unit as significant respiratory distress is often present immediately after birth. We present here a review of the pertinent literature in clinical manifestations, molecular background, diagnosis and management.
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Santiago, Chile. Electronic address: vfaundes@inta.cl.
authors.forename: Víctor
authors.initials: V
authors.lastname: Faundes
authors.affiliation: Sección Genética, Departamento de Medicina, Hospital Clínico Universidad de Chile, Santiago, Chile; Laboratorio de Citogenética, Clínica Alemana, Santiago, Chile.
authors.forename: Silvia
authors.initials: S
authors.lastname: Castillo-Taucher
authors.affiliation: Laboratorio de Genética Molecular Humana, Programa de Genética Humana, Instituto de Ciencias Biomédicas, Universidad de Chile, Santiago, Chile.
authors.forename: Patricio
authors.initials: P
authors.lastname: Gonzalez-Hormazabal
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
authors.forename: Kate
authors.initials: K
authors.lastname: Chandler
authors.affiliation: Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Exeter, United Kingdom.
authors.forename: Andrew
authors.initials: A
authors.lastname: Crosby
authors.affiliation: Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Exeter, United Kingdom.
authors.forename: Barry
authors.initials: B
authors.lastname: Chioza
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D002972:Cleft Palate / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D003937:Diagnosis, Differential; D005094:Exophthalmos / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D006801:Humans; D008831:Microcephaly / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D010026:Osteosclerosis / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D011296:Prenatal Diagnosis; D011379:Prognosis
keywords: FAM20C; Osteosclerosis; Respiratory distress; Skeletal dysplasia