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Deletion of 22q11.2 is the third highest risk for the development of schizophrenia, with only a greater risk conferred by being the child of two parents with schizophrenia or the monozygotic co\u2010twin of an affected individual. Both linkage and association studies of people with schizophrenia have implicated several susceptibility genes, of which three are in the 22q11.2 region; catechol\u2010<jats:italic>o<\/jats:italic>\u2010methyltransferase (<jats:italic>COMT)<\/jats:italic>, proline dehydrogenase (<jats:italic>PRODH<\/jats:italic>), and <jats:italic>Gnb1L.<\/jats:italic> In addition, variation in <jats:italic>Gnb1L<\/jats:italic> is associated with the presence of psychosis in males with 22q11.2DS. In mouse models of 22q11.2DS, haploinsufficiency of <jats:italic>Tbx1<\/jats:italic> and <jats:italic>Gnb1L<\/jats:italic> is associated with reduced prepulse inhibition, a schizophrenia endophenotype. The study of 22q11.2DS provides an attractive model to increase our understanding of the development and pathogenesis of schizophrenia and other psychiatric disorders in 22q11.2DS and in wider population. \u00a9 2008 Wiley\u2010Liss, Inc. 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