22q11.2 Deletion syndrome (22q11DS) is the most common known recurrent copy-number variant disorder. It
is also the most common known genetic risk factor for schizophrenia. The greater homogeneity of subjects with schizophrenia
in 22q11DS compared with schizophrenia in the wider non-deleted population may help to identify much needed
information on neuroanatomical substrates, and neurochemical and neurofunctional mechanisms that may modulate the
risk for schizophrenia. Identification of the underlying pathophysiology creates opportunities for developing genotypespecific,
biology-based and targeted treatments to prevent, delay or minimize the severity of schizophrenia in both
22q11DS and the wider non-deleted population. This article reviews neuroimaging studies that focused on brain structure
and function in this high-risk population, with particular attention to schizophrenia research. We also discuss the evidence
on the role of candidate genes within the 22q11.2 region, with particular reference to catechol-O-methyl transferase
(COMT) and proline dehydrogenase (PRODH).
Keywords: 22q11.2 Deletion syndrome, velocardiofacial syndrome, schizophrenia, psychosis, neuroimaging.
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