Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

Fleur S van Dijk; Peter G J Nikkels; Nicolette S den Hollander; Isabel M Nesbitt; Rick R van Rijn; Jan M Cobben; Gerard Pals

doi:10.2350/10-03-0806-CR.1

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

Pediatr Dev Pathol. 2011 May-Jun;14(3):228-34. doi: 10.2350/10-03-0806-CR.1. Epub 2010 Oct 14.

Authors

Fleur S van Dijk¹, Peter G J Nikkels, Nicolette S den Hollander, Isabel M Nesbitt, Rick R van Rijn, Jan M Cobben, Gerard Pals

Affiliation

¹ Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. [email protected]

PMID: 20946018
DOI: 10.2350/10-03-0806-CR.1

Abstract

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1 -associated OI is indistinguishable from COL1A1/2 -, CRTAP -, and PPIB -related OI.

Publication types

Case Reports

MeSH terms

Bone and Bones / pathology*
DNA Mutational Analysis
Family
Female
Humans
Infant, Newborn
Male
Membrane Glycoproteins / genetics*
Mutation
Osteogenesis Imperfecta / genetics*
Osteogenesis Imperfecta / pathology*
Pedigree
Prolyl Hydroxylases
Proteoglycans / genetics*
Reverse Transcriptase Polymerase Chain Reaction
Turkey

Substances

Membrane Glycoproteins
Proteoglycans
Prolyl Hydroxylases
P3H1 protein, human