Lethal/ Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Author(s):
Dijk, F.S. van; Nikkels, P.G.J.; Hollander, N.S. den; Nesbitt, I.M.; Rijn, R.R. van; Cobben, J.M.; Pals, G.
Published
2010
Publication type
Article / Letter to editor

Abstract

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 indicates that the histology of LEPRE1 associated OI is indistinguishable from COL1A1/2, CRTAP and PPIB related OI.

Date issued
2010
Language
English
Is part of
Pediatric and Developmental Pathology
hdl
1887/98914
doi
10.2350/10-03-0806-CR.1