22q11.2 microdeletions: Linking DNA structural variation to brain dysfunction and schizophrenia

Maria Karayiorgou, Tony J Simon, Joseph A. Gogos

Research output: Contribution to journalArticle

293 Scopus citations

Abstract

Recent studies are beginning to paint a clear and consistent picture of the impairments in psychological and cognitive competencies that are associated with microdeletions in chromosome 22q11.2. These studies have highlighted a strong link between this genetic lesion and schizophrenia. Parallel studies in humans and animal models are starting to uncover the complex genetic and neural substrates altered by the microdeletion. In addition to offering a deeper understanding of the effects of this genetic lesion, these findings may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders.

Original languageEnglish (US)
Pages (from-to)402-416
Number of pages15
JournalNature Reviews Neuroscience
Volume11
Issue number6
DOIs
StatePublished - Jun 2010
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)

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