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Updated: May 31, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Genome-wide investigation of rare structural variants identifies VIPR2 as a new candidate gene for schizophrenia
Vanessa Nieratschker1, Andreas Meyer-Lindenberg, Stephanie H Witt
1Central Institute of Mental Health, University of Heidelberg, Medical Faculty Mannheim, Mannheim, Germany.
Abstract:
Research has shown that structural variation in the human genome, including rare copy number variations (CNVs), contributes to genetic susceptibility to psychiatric diseases, such as schizophrenia, a devastating complex disorder with a high genetic load. The study by Vacic et al. applied a genome-wide approach to detect novel, rare and highly penetrant CNVs. Detailed analysis of microduplications at 7q36.3 revealed that the neuropeptide receptor gene VIPR2 confers a significant risk for schizophrenia. This suggests that altered vasoactive intestinal signaling contributes to the genetic etiology of this disorder. This article recapitulates the findings of this study within the context of current knowledge of CNVs in the field of psychiatric disease.
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