title: 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome.
abstract: 22q11 deletion syndrome (22qDS), also known as DiGeorge or velocardiofacial syndrome (DGS/VCFS), is a relatively common genetic anomaly that results in malformations of the heart, face and limbs. In addition, patients with 22qDS are at significant risk for psychiatric disorders as well, with one in four developing schizophrenia, and one in six developing major depressive disorders. Like several other deletion syndromes associated with psychiatric or cognitive problems, it has been difficult to determine which of the specific genes in this genomic region may mediate the syndrome. For example, patients with different genomic deletions within the 22q11 region have been found that have similar phenotypes, even though their deletions do not compromise the same set of genes. In this review, we discuss the individual genes found in the region of 22q11 that is commonly deleted in 22qDS patients, and the potential roles each of these genes may play in the syndrome. Although many of these genes are interesting candidates by themselves, we hypothesize that the full spectrum of anomalies associated with 22qDS may result from the combined result of disruptions to numerous genes within the region that are involved in similar developmental or cellular processes.
authors.affiliation: Department of Cell and Molecular Physiology, CB #7545, UNC School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Maynard
authors.forename: Gloria T
authors.initials: GT
authors.lastname: Haskell
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Lieberman
authors.forename: Anthony-Samuel
authors.initials: AS
authors.lastname: LaMantia
mesh_terms: D000818:Animals; D002490:Central Nervous System / Q000196:embryology / Q000254:growth & development / Q000503:physiopathology; D002648:Child; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003865:Major Depressive Disorder / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental / Q000235:genetics; D016678:Genome; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology