Identification of genomic rearrangements associated with mental disorders

Abstract

Mental disorders are complex genetic disorders; genetic deficiency is the major cause of mental disorders and which is likely highly individualized. Moreover, mental disorders might be correlated with multiple genes dysfunction. At present, there are no applicable biological markers to facilitate the clinical diagnosis of mental disorders. In recent studies, genomic rearrangement was found to contribute significantly to the genetic etiology of mental disorders. Using cytogenetic analysis and array-based comparative genomic hybridization (array-CGH analysis) we identified several genomic rearrangements in patients diagnosed with mental retardation, developmental abnormalities, schizophrenia, or autism. We identified a balanced translocation t(1;12)(p32.1;q21.3) in a family with mental retardation, a micro- deletion at Xp22.13 in a family with Nance-Horan syndrome. In schizophrenia patients, we identified three families with micro-duplications or micro-deletions at 6q12-13, 18q12.3 and 15q11.2-13.1, respectively, Furthermore, we also found an autism patient who carried a 4q12-13.1 micro-deletion and a 5q32 micro-duplication that inherited from mother and father, respectively. Our research reveals the association between genomic rearrangements and mental disorders and provides the information of susceptible loci and candidate genes associated with mental and development disorders. These results can be the references for clinical diagnosis and biological evidences of etiology in mental disorders. Furthermore, these findings may provide useful information for the prospective treatment of mental disorders.