Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene

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

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)319-325
Number of pages7
JournalFetal and Pediatric Pathology
Volume32
Issue number5
DOIs
StatePublished - Oct 1 2013

Fingerprint

Osteogenesis Imperfecta
Mutation
Collagen Type I
Hispanic Americans
African Americans
Connective Tissue
Bone Density
Genes
Fibroblasts
Bone and Bones
Skin
alpha 2(I) collagen
2-oxoglutarate 3-dioxygenase proline
Type 2B Osteogenesis imperfecta

Keywords

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

ASJC Scopus subject areas

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

Cite this

Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. / Moul, Adrienne; Alladin, Amanda; Navarrete, Cristina; Abdenour, George; Rodriguez, Maria.

In: Fetal and Pediatric Pathology, Vol. 32, No. 5, 01.10.2013, p. 319-325.

Research output: Contribution to journalArticle

Moul, Adrienne ; Alladin, Amanda ; Navarrete, Cristina ; Abdenour, George ; Rodriguez, Maria. / Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. In: Fetal and Pediatric Pathology. 2013 ; Vol. 32, No. 5. pp. 319-325.
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