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The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders
Author(s) -
Drew Liam J.,
Crabtree Gregg W.,
Markx Sander,
Stark Kimberly L.,
Chaverneff Florence,
Xu Bin,
Mukai Jun,
Fenelon Karine,
Hsu PeiKen,
Gogos Joseph A.,
Karayiorgou Maria
Publication year - 2011
Publication title -
international journal of developmental neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.761
H-Index - 88
eISSN - 1873-474X
pISSN - 0736-5748
DOI - 10.1016/j.ijdevneu.2010.09.007
Subject(s) - schizophrenia (object oriented programming) , population , etiology , chromosome , psychology , copy number variation , psychiatric genetics , genetics , neuroscience , biology , psychiatry , medicine , gene , environmental health , genome
Over the last fifteen years it has become established that 22q11.2 deletion syndrome (22q11DS) is a true genetic risk factor for schizophrenia. Carriers of deletions in chromosome 22q11.2 develop schizophrenia at rate of 25–30% and such deletions account for as many as 1–2% of cases of sporadic schizophrenia in the general population. Access to a relatively homogeneous population of individuals that suffer from schizophrenia as the result of a shared etiological factor and the potential to generate etiologically valid mouse models provides an immense opportunity to better understand the pathobiology of this disease. In this review we survey the clinical literature associated with the 22q11.2 microdeletions with a focus on neuroanatomical changes. Then, we highlight results from work modeling this structural mutation in animals. The key biological pathways disrupted by the mutation are discussed and how these changes impact the structure and function of neural circuits is described.