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

Murphy, K. C. and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2001. Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. British Journal of Psychiatry 179 (5) , pp. 397-402. 10.1192/bjp.179.5.397

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Neuroscience and Mental Health Research Institute (NMHRI) Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Royal College of Psychiatrists
ISSN:	0007-1250
Last Modified:	31 Oct 2022 09:51
URI:	https://orca.cardiff.ac.uk/id/eprint/82672

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