title: Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
abstract: Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.
authors.affiliation: Department of Pathology, Division of Pediatric Pathology, Miami, FL 33136, USA. mmrod@miami.edu
authors.forename: Adrienne
authors.initials: A
authors.lastname: Moul
authors.forename: Amanda
authors.initials: A
authors.lastname: Alladin
authors.forename: Cristina
authors.initials: C
authors.lastname: Navarrete
authors.forename: George
authors.initials: G
authors.lastname: Abdenour
authors.forename: Maria M
authors.initials: MM
authors.lastname: Rodriguez
mesh_terms: D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008562:Membrane Glycoproteins / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D064828:Prolyl Hydroxylases; D011509:Proteoglycans / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology / Q000235:genetics
chemical_list: D008562:Membrane Glycoproteins; D011509:Proteoglycans; D064828:Prolyl Hydroxylases; C485657:P3H1 protein, human