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Case Reports in Genetics
Volume 2011, Article ID 585893, 5 pages
http://dx.doi.org/10.1155/2011/585893
Case Report

A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

1Child Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USA
2Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 315, Atlanta, GA 30322, USA

Received 22 June 2011; Accepted 14 July 2011

Academic Editors: C.-W. Cheng, E. Ergul, and D. Steinberger

Copyright © 2011 Nicole K. A. Wilson 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. E. Vassos, D. A. Collier, S. Holden et al., “Penetrance for copy number variants associated with schizophrenia,” Human Molecular Genetics, vol. 19, no. 17, pp. 3477–3481, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  2. T. Walsh, J. M. McClellan, S. E. McCarthy et al., “Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia,” Science, vol. 320, no. 5875, pp. 539–543, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  3. J. L. Rapoport, A. Addington, and S. Frangou, “The neurodevelopmental model of schizophrenia: what can very early onset cases tell us?” Current Psychiatry Reports, vol. 7, no. 2, pp. 81–82, 2005. View at Google Scholar · View at Scopus
  4. A. M. Addington and J. L. Rapoport, “The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent,” Current Psychiatry Reports, vol. 11, no. 2, pp. 156–161, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. G. Kirov, D. Gumus, W. Chen et al., “Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia,” Human Molecular Genetics, vol. 17, no. 3, pp. 458–465, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  6. V. Endris, B. Wogatzky, U. Leimer et al., “The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 18, pp. 11754–11759, 2002. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  7. C. Gunnarsson and C. Foyn Bruun, “Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1,” American Journal of Medical Genetics Part A, vol. 152, no. 12, pp. 3110–3114, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  8. S. Shuib, D. McMullan, E. Rattenberry et al., “Microarray based analysis of 3p25-p26 deletions (3p- syndrome),” American Journal of Medical Genetics Part A, vol. 149, no. 10, pp. 2099–2105, 2009. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  9. M. Elstner, C. M. Morris, K. Heim et al., “Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene,” Annals of Neurology, vol. 66, no. 6, pp. 792–798, 2009. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  10. A. C. Need, D. Ge, M. E. Weale et al., “A genome-wide investigation of SNPs and CNVs in schizophrenia,” PLoS Genetics, vol. 5, no. 2, Article ID e1000373, 2009. View at Publisher · View at Google Scholar · View at PubMed
  11. S. G. Schwab, Irmansyah, Heriani et al., “Genome-wide scan in 124 Indonesian sib-pair families with schizophrenia reveals genome-wide significant linkage to a locus on chromosome 3p26-21,” American Journal of Medical Genetics Part B, vol. 147, no. 7, pp. 1245–1252, 2008. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  12. M. F. Arlt, J. G. Mulle, V. M. Schaibley et al., “Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants,” American Journal of Human Genetics, vol. 84, no. 3, pp. 339–350, 2009. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  13. B. Mowry and D. Nancarrow, “Molecular genetics of schizophrenia,” Clinical and Experimental Pharmacology and Physiology, vol. 28, no. 1-2, pp. 66–69, 2001. View at Publisher · View at Google Scholar · View at Scopus
  14. D. St Clair, D. Blackwood, W. Muir et al., “Association within a family of a balanced autosomal translocation with major mental illness,” The Lancet, vol. 336, no. 8706, pp. 13–16, 1990. View at Publisher · View at Google Scholar · View at Scopus
  15. A. Hayashi-Takagi, M. Takaki, N. Graziane et al., “Disrupted-in-Schizophrenia 1 (DISC1) regulates spines of the glutamate synapse via Rac1,” Nature Neuroscience, vol. 13, no. 3, pp. 327–332, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  16. B. R. Carlson, K. E. Lloyd, and A. Kruszewski, “WRP/srGAP3 facilitates the initiation of spine development by an inverse F-BAR domain, and its loss impairs long-term memory,” Journal of Neuroscience, vol. 31, no. 7, pp. 2447–2460, 2001. View at Google Scholar