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Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome

✍ Scribed by Sarah E. Prasad; Sarah Howley; Kieran C. Murphy

Publisher
Wiley (John Wiley & Sons)
Year
2008
Tongue
English
Weight
154 KB
Volume
14
Category
Article
ISSN
1940-5510

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✦ Synopsis

Abstract

There is an overwhelming evidence that children and adults with 22q11.2 deletion syndrome (22q11.2DS) have a characteristic behavioral phenotype. In particular, there is a growing body of evidence that indicates an unequivocal association between 22q11.2DS and schizophrenia, especially in adulthood. 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‐twin 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‐o‐methyltransferase (COMT), proline dehydrogenase (PRODH), and Gnb1L. In addition, variation in Gnb1L is associated with the presence of psychosis in males with 22q11.2DS. In mouse models of 22q11.2DS, haploinsufficiency of Tbx1 and Gnb1L 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. Β© 2008 Wiley‐Liss, Inc. Dev Disabil Res Rev 2008;14:26–34.

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