Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene

Adrienne Moul, Amanda Alladin, Cristina Navarrete, George Abdenour, Maria M. Rodriguez

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)319-325
Number of pages7
JournalFetal and Pediatric Pathology
Issue number5
StatePublished - Oct 2013


  • Autosomal recessive
  • LEPRE 1 gene
  • Osteogenesis imperfecta
  • Perinatal form
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health


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