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Case Reports in Genetics
Volume 2011 (2011), Article ID 585893, 5 pages
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.


Schizophrenia is a debilitating mental disorder affecting approximately 1% of the world's population. Childhood onset schizophrenia (COS), defined as onset before age 13, is a rare and severe form of the illness that may have more salient genetic influence. We identified a ~134 kb duplication spanning exons 2–4 of the Slit-Robo GTPase-activating protein 3 (SRGAP3) gene on chromosome 3p25.3 that tracks with psychotic illness in the family of a COS proband. Cloning and sequencing of the duplication junction confirmed that the duplication is tandem, and analysis of the resulting mRNA transcript suggests that the duplication would result in a frame shift mutation. This is the first family report of a SRGAP3 copy number variant (CNV) in schizophrenia. Considering that SRGAP3 is important in neural development, we conclude that this SRGAP3 duplication may be an important factor contributing to the psychotic phenotype in this family.