Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings-Reference-Cited by-同舟云学术

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

Published:2011-05 Issue:3 Volume:14 Page:228-234
ISSN:1093-5266
Container-title:Pediatric and Developmental Pathology
language:en
Short-container-title:Pediatr Dev Pathol

Author:

van Dijk Fleur S.¹,Nikkels Peter G.J.²,den Hollander Nicolette S.³,Nesbitt Isabel M.⁴,van Rijn Rick R.⁵,Cobben Jan M.⁶,Pals Gerard⁷

Affiliation:

1. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

2. Department of Pathology, University Medical Center Utrecht, The Netherlands

3. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

4. Sheffield Molecular Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, United Kingdom

5. Department of Pediatric Radiology, Academic Medical Center, Amsterdam, The Netherlands

6. Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands

7. Centre for Connective Tissue Research, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

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.

Publisher

SAGE Publications

Subject

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

Link

http://journals.sagepub.com/doi/pdf/10.2350/10-03-0806-CR.1

Reference15 articles.

1. Classification of Osteogenesis Imperfecta revisited

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3. Osteogenesis imperfecta

4. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

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