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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\u2010wide 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 <jats:italic>DRD5<\/jats:italic> containing duplication. A second index patient presented with an <jats:italic>NRXN1<\/jats:italic> containing deletion and two adjacent duplications containing <jats:italic>MYT1L<\/jats:italic> and <jats:italic>SNTG2<\/jats:italic>. 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\u2010symptomatic causal CNV carriers in particular. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.32146","type":"journal-article","created":{"date-parts":[[2013,3,15]],"date-time":"2013-03-15T21:17:36Z","timestamp":1363382256000},"page":"273-282","source":"Crossref","is-referenced-by-count":23,"title":["Identification of rare copy number variants in high burden schizophrenia families"],"prefix":"10.1002","volume":"162","author":[{"given":"Maarten J.","family":"Van Den 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