How to Cite this Article: Van Den Bossche MJ, Strazisar M, Cammaerts S, Liekens AM, Vandeweyer G, Depreeuw V, Mattheijssens M, Lenaerts A-S, De Zutter S, De Rijk P, Sabbe B, Del-Favero J. 2013. Identification of Rare Copy Number Variants in High Burden Schizophrenia Families. Am J Med Genet Part B 162B:273–282.
Article first published online: 15 MAR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 162, Issue 3, pages 273–282, April 2013
How to Cite
Van Den Bossche, M. J., Strazisar, M., Cammaerts, S., Liekens, A. M., Vandeweyer, G., Depreeuw, V., Mattheijssens, M., Lenaerts, A.-S., De Zutter, S., De Rijk, P., Sabbe, B. and Del-Favero, J. (2013), Identification of rare copy number variants in high burden schizophrenia families. Am. J. Med. Genet., 162: 273–282. doi: 10.1002/ajmg.b.32146
All authors report no biomedical financial interests or potential conflicts of interest.
- Issue published online: 19 MAR 2013
- Article first published online: 15 MAR 2013
- Manuscript Accepted: 13 FEB 2013
- Manuscript Received: 20 AUG 2012
- Fund for Scientific Research Flanders (FWO-F)
- Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT-F)
- copy number variants;
- translational genetics;
- family study;
- rare genetic variants
Over the last years, genome-wide studies consistently showed an increased burden of rare copy number variants (CNVs) in schizophrenia patients, supporting the “common disease, rare variant” hypothesis in at least a subset of patients. We hypothesize that in families with a high burden of disease, and thus probably a high genetic load influencing disease susceptibility, rare CNVs might be involved in the etiology of schizophrenia. We performed a genome-wide CNV analysis in the index patients of eight families with multiple schizophrenia affected members, and consecutively performed a detailed family analysis for the most relevant CNVs. One index patient showed a DRD5 containing duplication. A second index patient presented with an NRXN1 containing deletion and two adjacent duplications containing MYT1L and SNTG2. Detailed analysis in the subsequent families showed segregation of the identified CNVs. With this study we show the importance of screening high burden families for rare CNVs, which will not only broaden our knowledge concerning the molecular genetic mechanisms involved in schizophrenia but also allow the use of the obtained genetic data to provide better clinical care to these families in general and to non-symptomatic causal CNV carriers in particular. © 2013 Wiley Periodicals, Inc.