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Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia

Division of Psychological Medicine, Institute of Psychiatry, King's College London

M.J. OWEN, FRCPsych

Department of Psychological Medicine, University of Wales College of Medicine, Cardiff

Correspondence: Dr K. Murphy, Division of Psychological Medicine, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK. Tel: 020 7848 0984; fax: 020 7548 0650; e-mail: k.murphy{at}iop.kcl.ac.uk

Declaration of interest None. M.O. is funded by a cooperative group grant from the Medical Research Council.

Background Individuals with velocardio-facial syndrome (VCFS), a genetic disorder associated with microdeletions of chromosome 22q11, are reported to have high rates of psychiatric disorder, particularly schizophrenia.

Aims To review the evidence for an association between VCFS and schizophrenia: to outline recent neuropsychological, neuroanatomical and genetic studies of individuals with VCFS; and to make recommendations for future work.

Method A selective literature review was undertaken.

Results Individuals with VCFS have high rates of psychotic disorders, particularly schizophrenia. In addition, specific neuropsychological and neuroanatomical abnormalities have been reported although it is unclear whether such abnormalities relate to the presence of psychiatric disorder in affected individuals.

Conclusions Deletion of chromosome 22q11 represents one of the highest known risk factors for the development of schizophrenia. It is likely that haploinsufficiency (reduced gene dosage) of a neurodevelopmental gene or genes mapping to chromosome 22q11, leading to disturbed neuronal migration, underlies susceptibility to psychosis in VCFS.

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