Abstract
Many studies have indicated that chromosomes 15q11 and 22q11 may be associated with the genetic etiologies of schizophrenia. We have followed an adult schizophrenia case with 15q11.1-q11.2 duplication and 22q11.2 deletion. Here we report his clinical history, and copy number variants (CNVs) identified by microarray and real-time PCR in the patient and his parents. This is the first report describing a detailed phenotype of an adult schizophrenic case with both 15q11 and 22q11 CNVs as revealed by novel and trustworthy technologies. Subjects were a 33-year-old male patient with 15q11 and 22q11 CNVs, and his normal parents. He fulfilled the DSM-IV criteria for schizophrenia at age 18 years. He was also diagnosed with 22q11.2 deletion syndrome by fluorescence in situ hybridization (FISH) at age 18 years. To search for CNVs in more detail, whole-genome array-CGH analyses including ∼ 420,000 probes were carried out in the patient and his parents. For validations of the CNVs detected by array-CGH, real-time PCR analyses of these CNVs were performed. The patient had two disease-specific CNVs, 15q11.1-q11.2 duplication (∼ 2.7 Mb) and 22q11.21 deletion (∼ 2.9 Mb). These two regions are important for the development of schizophrenia, and ...Continue Reading
References
Oct 1, 1995·Schizophrenia Research·M T Tsuang, S V Faraone
Jun 3, 2005·The Journal of Clinical Investigation·George KirovMichael J Owen
Oct 7, 2005·American Journal of Medical Genetics. Part a·Anne S BassettMichael A Gatzoulis
Mar 1, 2007·Pharmacopsychiatry·M DomulaU E Lang
Nov 16, 2007·Human Molecular Genetics·Nigel M WilliamsMichael J Owen
Jul 16, 2008·American Journal of Medical Genetics. Part a·Bernhard Horsthemke, Joseph Wagstaff
Aug 1, 2008·Nature·UNKNOWN International Schizophrenia Consortium
Aug 1, 2008·Nature·Hreinn StefanssonKari Stefansson
Feb 18, 2011·The American Journal of Psychiatry·Andrés IngasonThomas Werge
Apr 19, 2011·Molecular Cytogenetics·Emmanouil ManolakosSofia Kitsiou-Tzeli
Nov 1, 2011·Annual Review of Medicine·Laura Rodriguez-MurilloMaria Karayiorgou
Nov 29, 2011·BMC Medical Genetics·Larissa R StewartArthur L Beaudet
May 1, 2012·PloS One·Vibeke Sørensen Catts, Cynthia Shannon Weickert
Jan 22, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Hywel J WilliamsMichael J Owen
Oct 18, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Sakae Takahashi
Oct 29, 2013·Human Molecular Genetics·Elliott ReesGeorge Kirov
Apr 30, 2014·Molecular Psychiatry·J P SzatkiewiczP F Sullivan