Osteogenesis Imperfecta Due to Compound Heterozygosity for theLEPRE1Gene
Open Access
- 10 January 2013
- journal article
- research article
- Published by Taylor & Francis in Fetal and Pediatric Pathology
- Vol. 32 (5) , 319-325
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.Keywords
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