Mouse Models of 22q11 Deletion Syndrome

摘要: 22q11 deletion syndrome (22q11DS) is caused by an interstitial chromosomal microdeletion that encompasses about 40 genes. It the most common of syndromes. The clinical phenotype, which complex and variable, includes specific congenital defects cardiovascular system, craniofacies, immune system. In early childhood, patients manifest cognitive impairment, behavioral disorders, delays in motor development language acquisition. Adult have a high risk for developing serious psychiatric especially schizophrenia, schizoaffective disorder, bipolar disorder. great majority identical or near deletion, genotype–phenotype correlations not been established. Indeed, little progress was made toward resolving phenotype until successfully modeled mouse. recent years, through variety mouse mutants carry multigene single gene mutations, we learned mutation gene, Tbx1, responsible seen models patients. We now face greater challenge as attempt to use address pathogenesis disorders associated with 22q11DS. Significant has already made, studies suggest several genes from deleted region affect behavior might contribute disease burden