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Fetal Pediatr Pathol · Oct 2013
Case ReportsOsteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
- Adrienne Moul, Amanda Alladin, Cristina Navarrete, George Abdenour, and Maria M Rodriguez.
- Department of Pathology, Division of Pediatric Pathology, Miami, FL 33136, USA. mmrod@miami.edu
- Fetal Pediatr Pathol. 2013 Oct 1; 32 (5): 319-25.
AbstractOsteogenesis 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.
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