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Case Reports in Genetics
Volume 2016, Article ID 9814928, 5 pages
http://dx.doi.org/10.1155/2016/9814928
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.

Linked References

  1. A. Marques-Pinheiro, R. Levasseur, C. Cormier et al., “Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome,” Joint Bone Spine, vol. 77, no. 2, pp. 151–153, 2010. View at Publisher · View at Google Scholar · View at Scopus
  2. C. M. Laine, B. D. Chung, M. Susic et al., “Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG),” European Journal of Human Genetics, vol. 19, no. 8, pp. 875–881, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. B. V. Pellathy, “V. Ablatio retinae und Uveitis congenita bei drei Geschwistern,” Z Augenheilkd, vol. 73, no. 4-5, pp. 249–254, 1931. View at Publisher · View at Google Scholar
  4. Y. Gong, R. B. Slee, N. Fukai et al., “LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development,” Cell, vol. 107, no. 4, pp. 513–523, 2001. View at Publisher · View at Google Scholar
  5. J. Takagi, Y. Yang, J. H. Liu, J. H. Wang, and T. A. Springer, “Complex between nidogen and laminin fragments reveals a paradigmatic β-propeller interface,” Nature, vol. 424, no. 6951, pp. 969–974, 2003. View at Publisher · View at Google Scholar
  6. R. Levasseur, D. Lacombe, and M. C. De Vernejoul, “LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders,” Joint Bone Spine, vol. 72, no. 3, pp. 207–214, 2005. View at Publisher · View at Google Scholar · View at Scopus
  7. M. L. Johnson, “LRP5 and bone mass regulation: where are we now?” BoneKEy Reports, vol. 1, article 1, 2012. View at Publisher · View at Google Scholar
  8. L. Van Wesenbeeck, E. Cleiren, J. Gram et al., “Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density,” The American Journal of Human Genetics, vol. 72, no. 3, pp. 763–771, 2003. View at Publisher · View at Google Scholar · View at Scopus
  9. Y. Gong, M. Vikkula, L. Boon et al., “Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13,” The American Journal of Human Genetics, vol. 59, no. 1, pp. 146–151, 1996. View at Google Scholar · View at Scopus
  10. H. Somer, A. Palotie, M. Somer, V. Hoikka, and L. Peltonen, “Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies,” Journal of Medical Genetics, vol. 25, no. 8, pp. 543–549, 1988. View at Publisher · View at Google Scholar · View at Scopus
  11. M. Kato, M. S. Patel, R. Levasseur et al., “Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor,” Journal of Cell Biology, vol. 157, no. 2, pp. 303–314, 2002. View at Publisher · View at Google Scholar · View at Scopus
  12. N. Alonso, D. C. Soares, E. V. McCloskey, G. D. Summers, S. H. Ralston, and C. L. Gregson, “Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5,” Journal of Bone and Mineral Research, vol. 30, no. 4, pp. 615–620, 2015. View at Publisher · View at Google Scholar
  13. E. R. Barros, M. R. Dias da Silva, I. S. Kunii, O. M. Hauache, and M. Lazaretti-Castro, “A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome,” Osteoporosis International, vol. 18, no. 7, pp. 1017–1018, 2007. View at Publisher · View at Google Scholar · View at Scopus
  14. A. S. Teebi, S. A. Al-Awadi, M. J. Marafie, R. A. Bushnaq, and S. Satyanath, “Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association,” Journal of Medical Genetics, vol. 25, no. 1, pp. 32–36, 1988. View at Publisher · View at Google Scholar · View at Scopus
  15. W. Balemans and W. Van Hul, “Minireview: the genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes,” Endocrinology, vol. 148, no. 6, pp. 2622–2629, 2007. View at Publisher · View at Google Scholar · View at Scopus
  16. E. A. Streeten, D. McBride, E. Puffenberger et al., “Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates,” Bone, vol. 43, no. 3, pp. 584–590, 2008. View at Publisher · View at Google Scholar · View at Scopus
  17. Z. A. Zhong and B. O. Williams, “LRP5(low density lipoprotein receptor-related protein 5),” Atlas of Genetics and Cytogenetics in Oncology and Haematology, vol. 15, no. 3, pp. 270–275, 2011. View at Google Scholar
  18. V. S. Spiegelman, T. J. Slaga, M. Pagano, T. Minamoto, Z. Ronai, and S. Y. Fuchs, “Wnt/beta-catenin signaling induces the expression and activity of betaTrCP ubiquitin ligase receptor,” Molecular Cell, vol. 5, no. 5, pp. 877–882, 2000. View at Publisher · View at Google Scholar · View at Scopus
  19. M. Ai, S. Heeger, C. F. Bartels, D. K. Schelling, and M. L. Warman, “Clinical and molecular findings in osteoporosis-pseudoglioma syndrome,” The American Journal of Human Genetics, vol. 77, no. 5, pp. 741–753, 2005. View at Publisher · View at Google Scholar · View at Scopus
  20. R. Baron and G. Rawadi, “Targeting the Wnt/β-catenin pathway to regulate bone formation in the adult skeleton,” Endocrinology, vol. 148, no. 6, pp. 2635–2643, 2007. View at Publisher · View at Google Scholar
  21. M. A. Koay, J. H. Tobias, S. D. Leary, C. D. Steer, C. Vilariño-Güell, and M. A. Brown, “The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood,” Calcified Tissue International, vol. 81, no. 1, pp. 1–9, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. D. L. Koller, S. Ichikawa, M. L. Johnson et al., “Contribution of the LRP5 gene to normal variation in peak BMD in women,” Journal of Bone and Mineral Research, vol. 20, no. 1, pp. 75–80, 2005. View at Publisher · View at Google Scholar · View at Scopus
  23. S. L. Ferrari, S. Deutsch, U. Choudhury et al., “Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in white,” American Journal of Human Genetics, vol. 74, no. 5, pp. 866–875, 2004. View at Publisher · View at Google Scholar · View at Scopus
  24. R. Sassi, H. Sahli, C. Souissi et al., “Association of LRP5 genotypes with osteoporosis in Tunisian post-menopausal women,” BMC Musculoskeletal Disorders, vol. 15, no. 1, article 144, 2014. View at Publisher · View at Google Scholar · View at Scopus