Velocardiofacial syndrome (Chromosome 22q11.2 deletion syndrome) as a model of schizophrenia


Book Section

© Cambridge University Press 2010. Facts box Velocardiofacial syndrome (VCFS), caused by a heterozygous deletion of chromosome 22q11.2, is associated with congenital anomalies, medical complications, and cognitive impairment. VCFS is associated with an extraordinarily high risk (30%-40%) of major psychiatric illnesses, in late adolescence and early adulthood, mainly schizophrenia (25%-30%) but also schizotypy, bipolar illness, and major depression. It has been found that 1%-2% of individuals with schizophrenia in the general population have a 22q11.2 deletion, whereas 5% of patients with childhood-onset schizophrenia will have VCFS upon testing. The early neurocognitive manifestations in VCFS are similar to those that would be expected to occur on the pathway to schizophrenia. The brain structural abnormalities in VCFS have many parallels with those seen in schizophrenia. In individuals with VCFS, there is controversy about the relationship between the COMT genotype, the cognitive deficits, and schizophrenia. There are other genes of interest in the deletion region that may be of relevance to schizophrenia. Mouse models of VCFS have proven to be of limited value in understanding the mechanisms involved in psychosis. Introduction In recent years, schizophrenia has been viewed as a neurodevelopmental disorder. This neurodevelopmental theory suggests that neurocognitive and neuroanatomical abnormalities often precede the development of overt psychosis. The delineation of the progression of these often subclinical neurocognitive and morphological brain anomalies provides an opportunity to identify at-risk individuals, improve the understanding of the pathogenesis of this complex disorder, and ultimately hasten the development of prophylactic interventions.

Full Text

Duke Authors

Cited Authors

  • Shashi, V; Berry, MN

Published Date

  • January 1, 2010

Book Title

  • Secondary Schizophrenia

Start / End Page

  • 309 - 327

International Standard Book Number 13 (ISBN-13)

  • 9780521856973

Digital Object Identifier (DOI)

  • 10.1017/CBO9780511789977.025

Citation Source

  • Scopus