The velocardiofacial syndrome in psychiatry

Velocardiofacial syndrome (VCFS) is a genetic disability syndrome that is caused, in most cases, by a de-novo 3 Mb microdeletion at chromosome region 22q11.2. The behavioral phenotype includes characteristic developmental, cognitive, and linguistic deficits, and psychiatric disorders, including childhood abnormalities of attention, mood, and anxiety. Recently, it was established that approximately 30% of people with VCFS develop schizophrenia, establishing VCFS as the first known genetic cause of schizophrenia. There has been recent progress in describing the molecular biology of the deletion site, characterizing the behavioral phenotype, and in defining the structural brain abnormalities in VCFS. However, numerous knowledge gaps remain in tracing the pathways from gene expression to brain structure, and to cognitive and psychiatric symptoms.