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BioMed Research International
Volume 2015, Article ID 517815, 8 pages
http://dx.doi.org/10.1155/2015/517815
Research Article

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

1Molecular Genetics and Enzymology Department, Human Genetics & Genome Research Division, National Research Centre, 33 El Bohouth Street (Former El Tahrir Street), P.O. Box 12622, Dokki, Giza, Egypt
2Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Centre, Egypt
3Department of Medicine, Faculty of Medicine, Cairo University, Egypt
4Department of Orodental Genetics, Medical Research Division, National Research Centre, Egypt

Received 4 January 2015; Revised 13 March 2015; Accepted 29 March 2015

Academic Editor: Jozef Zustin

Copyright © 2015 Alaaeldin Fayez 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. S. K. Bhadada, A. Rastogi, E. Steenackers et al., “Novel SOST gene mutation in a sclerosteosis patient and her parents,” Bone, vol. 52, no. 2, pp. 707–710, 2013. View at Publisher · View at Google Scholar · View at Scopus
  2. E. Piters, C. Culha, M. Moester et al., “First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function,” Human Mutation, vol. 31, no. 7, pp. E1526–E1543, 2010. View at Publisher · View at Google Scholar · View at Scopus
  3. http://www.ncbi.nlm.nih.gov/clinvar.
  4. O. Leupin, E. Piters, C. Halleux et al., “Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function,” The Journal of Biological Chemistry, vol. 286, no. 22, pp. 19489–19500, 2011. View at Publisher · View at Google Scholar · View at Scopus
  5. http://dna.macrogen.com/.
  6. http://www.geospiza.com/.
  7. http://www.mutationtaster.org/.
  8. http://snp-nexus.org/.
  9. http://swissmodel.expasy.org/.
  10. http://www.uniprot.org/.
  11. P. J. Marie and M. Kassem, “Osteoblasts in osteoporosis: past, emerging, and future anabolic targets,” European Journal of Endocrinology, vol. 165, no. 1, pp. 1–10, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. P. Beighton, “Sclerosteosis,” Journal of Medical Genetics, vol. 25, no. 3, Article ID 3351908, pp. 200–203, 1988. View at Google Scholar
  13. W. Balemans, J. van den Ende, A. F. Paes-Alves et al., “Localization of the gene for sclerosteosis to the van Buchem disease—gene region on chromosome 17q12-q21,” The American Journal of Human Genetics, vol. 64, no. 6, pp. 1661–1669, 1999. View at Publisher · View at Google Scholar · View at Scopus
  14. M. E. Brunkow, J. C. Gardner, J. Van Ness et al., “Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein,” American Journal of Human Genetics, vol. 68, no. 3, pp. 577–589, 2001. View at Publisher · View at Google Scholar · View at Scopus
  15. W. Van Hul, W. Balemans, E. Van Hul et al., “Van Buchem disease (Hyperostosis corticalis generalisata) maps to chromosome 17q12-q21,” American Journal of Human Genetics, vol. 62, no. 2, pp. 391–399, 1998. View at Publisher · View at Google Scholar · View at Scopus
  16. W. Balemans, N. Patel, M. Ebeling et al., “Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease,” Journal of Medical Genetics, vol. 39, no. 2, pp. 91–97, 2002. View at Publisher · View at Google Scholar · View at Scopus
  17. G. G. Loots, M. Kneissel, H. Keller et al., “Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease,” Genome Research, vol. 15, no. 7, pp. 928–935, 2005. View at Publisher · View at Google Scholar · View at Scopus
  18. R. L. van Bezooijen, B. A. J. Roelen, A. Visser et al., “Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist,” Journal of Experimental Medicine, vol. 199, no. 6, pp. 805–814, 2004. View at Publisher · View at Google Scholar · View at Scopus
  19. M. K. Sutherland, J. C. Geoghegan, C. Yu et al., “Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation,” Bone, vol. 35, no. 4, pp. 828–835, 2004. View at Publisher · View at Google Scholar · View at Scopus
  20. D. G. Winkler, M. K. Sutherland, J. C. Geoghegan et al., “Osteocyte control of bone formation via sclerostin, a novel BMP antagonist,” The EMBO Journal, vol. 22, no. 23, pp. 6267–6276, 2003. View at Publisher · View at Google Scholar · View at Scopus