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Case Reports in Genetics
Volume 2016, Article ID 9814928, 5 pages
Case Report

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

1Rheumatology Department, Nouakchott Military Hospital, Mauritania
2Faculté de Médecine de Nouakchott, Mauritania
3Service des Laboratoires, Centre Hospitalier National de Nouakchott, Mauritania
4Service de Chirurgie Orthopédique, Hôpital Militaire de Nouakchott, Mauritania
5Assistance Publique-Hôpitaux de Paris, Hôpital Lariboisière, Laboratoire de Biochimie et de Biologie Moléculaire, Paris, France

Received 22 August 2015; Accepted 24 December 2015

Academic Editor: Shoji Ichikawa

Copyright © 2016 Noura Biha et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child. This 10-year-old female child was born blind, and after then multiple fragility fractures appeared. PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G>A; ); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third β-propeller domain of the LRP5 protein. Both parents were heterozygous for the mutation. This is the first case of the OPPG described in black Africans, which broadens the spectrum of LRP5 gene mutations in OPPG.