Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
Article first published online: 24 MAR 2008
Copyright © 2008 Wiley-Liss, Inc.
Developmental Disabilities Research Reviews
Special Issue: Deletion of 22q11.2
Volume 14, Issue 1, pages 26–34, 2008
How to Cite
Prasad, S. E., Howley, S. and Murphy, K. C. (2008), Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev Disabil Res Revs, 14: 26–34. doi: 10.1002/ddrr.5
- Issue published online: 24 MAR 2008
- Article first published online: 24 MAR 2008
- Manuscript Received: 16 JAN 2008
- Manuscript Accepted: 16 JAN 2008
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. © 2008 Wiley-Liss, Inc. Dev Disabil Res Rev 2008;14:26–34.