Tzu Chi Medical Journal
Volume 21, Issue 3 , Pages 197-203 , September 2009

Copy Number Variations and Psychiatric Disorders

  • Yu-Lin Chao

      Affiliations

    • Department of Psychiatry, Buddhist Tzu Chi General Hospital, tiualien, Taiwan
    • Qraduate Institute of Clinical Medicine, Tzu Chi University, tiualien, Taiwan
    • ,
  • Wei-Hsien Chien

      Affiliations

    • Institute of Medical Sciences, Tzu Chi University, tiualien, Taiwan
    • ,
  • Hsiao-Mei Liao

      Affiliations

    • Institute of Biotechnology, national Tsing fiua University, Hsinchu, Taiwan
    • ,
  • Jye-Siung Fang

      Affiliations

    • Graduate Institute of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan
    • ,
  • Chia-Hsiang Chen

      Affiliations

    • Qraduate Institute of Clinical Medicine, Tzu Chi University, tiualien, Taiwan
    • Institute of Medical Sciences, Tzu Chi University, tiualien, Taiwan
    • Graduate Institute of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan
    • Division of Mental Health and Addiction Medicine, Institute of Population Health Sciences, National Health Research Institutes, Miaoli, Taiwan
    • Corresponding Author InformationCorresponding author. Division of Mental Health and Addiction Medicine, Institute of Population Health Sciences, national Health Research Institutes, 35, Keyan Road, Zhunan, Miaoli, Taiwan

Received 25 August 2009 ,Revised 31 August 2009 ,Accepted 4 September 2009.

References 

  1. Becker KG . The common variants/multiple disease hypothesis of common complex genetic disorders . Med Hypotheses . 2004;62:309–317
  2. Alaerts M , Del-Favero J . Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future . Hum Mutat . 2009;30:1139–1152
  3. Williams HJ , Owen MJ , O'Donovan MC . Schizophrenia genetics: new insights from new approaches . Br Med Bull . 2009;91:61–74
  4. Bertram L . Genetic research in schizophrenia: new tools and future perspectives . Schizophr Bull . 2008;34:806–812
  5. Sun J , Kuo PH , Riley BP , Kendler KS , Zhao Z . Candidate genes for schizophrenia: a survey of association studies and gene ranking . Am J Med Genet B Neuropsychiatr Genet . 2008;147B:1173–1181
  6. Khoury MJ , Bertram L , Boffetta P , et al.   Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases . Am J Epidemiol . 2009;170:269–279
  7. Potkin SG , Turner JA , Guffanti G , et al.   Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: methodological considerations . Cogn Neuropsychiatry . 2009;14:391–418
  8. O'Donovan MC , Craddock NJ , Owen MJ . Genetics of psychosis; insights from views across the genome . Hum Genet . 2009;126:3–12
  9. Cichon S , Craddock N , Daly M , et al.   Genome-wide association studies: history, rationale, and prospects for psychiatric disorders . Am J Psychiatry . 2009;166:540–556
  10. Blackwood DH , Thiagarajah T , Malloy P , Pickard BS , Muir WJ . Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia . Neurotox Res . 2008;14:113–120
  11. MacIntyre DJ , Blackwood DH , Porteous DJ , Pickard BS , Muir WJ . Chromosomal abnormalities and mental illness . Mol Psychiatry . 2003;8:275–287
  12. Martin CL , Ledbetter DH . Autism and cytogenetic abnormalities: solving autism one chromosome at a time . Curr Psychiatry Rep . 2007;9:141–147
  13. Bejjani BA , Shaffer LG . Clinical utility of contemporary molecular cytogenetics . Annu Rev Genomics Hum Genet . 2008;9:71–86
  14. Shinawi M , Cheung SW . The array CGH and its clinical applications . Drug Discov Today . 2008;13:760–770
  15. Hastings PJ , Ira G , Lupski JR . A microhomology-mediated break-induced replication model for the origin of human copy number variation . PLoS Genet . 2009;5: e1000327.
  16. Lupski JR . Genome structural variation and sporadic disease traits . Nat Genet . 2006;38:974–976
  17. Stankiewicz P , Lupski JR . The genomic basis of disease, mechanisms and assays for genomic disorders . Genome Dyn . 2006;1:1–16
  18. Sebat J , Lakshmi B , Malhotra D , et al.   Strong association of de novo copy number mutations with autism . Science . 2007;316:445–449
  19. Szatmari P , Paterson AD , Zwaigenbaum L , et al.   Mapping autism risk loci using genetic linkage and chromosomal rearrangements . Nat Genet . 2007;39:319–328
  20. Marshall CR , Noor A , Vincent JB , et al.   Structural variation of chromosomes in autism spectrum disorder . Am J Hum Genet . 2008;82:477–488
  21. Weiss LA , Shen Y , Korn JM , et al.   Association between microdeletion and microduplication at 16p11.2 and autism . N Engl J Med . 2008;358:667–675
  22. Kumar RA , KaraMohamed S , Sudi J , et al.   Recurrent 16p11.2 microdeletions in autism . Hum Mol Genet . 2008;17:628–638
  23. Christian SL , Brune CW , Sudi J , et al.   Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder . Biol Psychiatry . 2008;63:1111–1117
  24. Jacquemont ML , Sanlaville D , Redon R , et al.   Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders . J Med Genet . 2006;43:843–849
  25. McCarroll SA , Kuruvilla FG , Korn JM , et al.   Integrated detection and population-genetic analysis of SNPs and copy number variation . Nat Genet . 2008;40:1166–1174
  26. Lin CH , Li LH , Ho SF , et al.   A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan . BMC Genet . 2008;9:92
  27. Boerkoel CF , Inoue K , Reiter LT , Warner LE , Lupski JR . Molecular mechanisms for CMT1A duplication and HNPP deletion . Ann N Y Acad Sci . 1999;883:22–35
  28. Katsanis N , Lupski JR , Beales PL . Exploring the molecular basis of Bardet-Biedl syndrome . Hum Mol Genet . 2001;10:2293–2299
  29. Elsea SH , Girirajan S . Smith-Magenis syndrome . Eur J Hum Genet . 2008;16:412–421
  30. Schubert C . The genomic basis of the Williams-Beuren syndrome . Cell Mol Life Sci . 2009;66:1178–1197
  31. Lupski JR . Genomic rearrangements and sporadic disease . Nat Genet . 2007;39:S43–S47
  32. Schaschl H , Aitman TJ , Vyse TJ . Copy number variation in the human genome and its implication in autoimmunity . Clin Exp Immunol . 2009;156:12–16
  33. Lee JA , Lupski JR . Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders . Neuron . 2006;52:103–121
  34. Leonard H , Wen X . The epidemiology of mental retardation: challenges and opportunities in the new millennium . Ment Retard Dev Disabil Res Rev . 2002;8:117–134
  35. Moser HW . Genetic causes of mental retardation . Ann N Y Acad Sci . 2004;1038:44–48
  36. Chelly J , Khelfaoui M , Francis F , Chérif B , Bienvenu T . Genetics and pathophysiology of mental retardation . Eur J Hum Genet . 2006;14:701–713
  37. Raymond FL , Tarpey P . The genetics of mental retardation . Hum Mol Genet . 2006;15:110–116
  38. De Ravel T , Devriendt K , Fryns JP , Vermeesch J . What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH) . Eur J Pediatr . 2007;166:637–643
  39. Madrigal I , Rodríguez-Revenga L , Armengol L , et al.   X-chromosome tiling path array detection of copy variants in patients with chromosome X-linked mental retardation . BMC Genomics . 2007;8:443
  40. Baptista J , Mercer C , Prigmore E , et al.   Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort . Am J Hum Genet . 2008;82:927–936
  41. De Gregori M , Ciccone R , Magini P , et al.   Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients . J Med Genet . 2007;44:750–762
  42. Bruno DL , Ganesamoorthy D , Schoumans J , et al.   Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice . J Med Genet . 2009;46:123–131
  43. McMullan DJ , Bonin M , Hehir-Kwa JY , et al.   Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study . Hum Mutat . 2009;30:1082–1092
  44. Edelmann L , Hirschhorn K . Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies . Ann N Y Acad Sci . 2009;1151:157–166
  45. Bijlsma EK , Gijsbers AC , Schuurs-Hoeijmakers JH , et al.   Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals . Eur J Med Genet . 2009;52:77–87
  46. Webber C , Hehir-Kwa JY , Nguyen DQ , de Vries BB , Veltman JA , Ponting CP . Forging links between human mental retardation-associated CNVs and mouse gene knockout models . PLoS Genet . 2009;5: e1000531.
  47. Kanner L . Autistic disturbances of affective contact . Nerv Child . 1943;2:217–250
  48. Fombonne E . Epidemiological surveys of autism and other pervasive developmental disorders: an update . J Autism Dev Disord . 2003;33:365–382
  49. Bailey A , Le Couteur A , Gottesman I , et al.   Autism as a strongly genetic disorder: evidence from a British twin study . Psychol Med . 1995;25:63–77
  50. Steffenburg S , Gillberg C , Hellgren L , et al.   A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden . J Child Psychol Psychiatry . 1989;30:405–416
  51. Veenstra-Vanderweele J , Christian SL , Cook EH . Autism as a paradigmatic complex genetic disorder . Annu Rev Genomics Hum Genet . 2004;5:379–405
  52. Cook EH , Lindgren V , Leventhal BL , et al.   Autism or atypical autism in maternally but not paternally derived proximal 15q duplication . Am J Hum Genet . 1997;60:928–934
  53. Abrahams BS , Geschwind DH . Advances in autism genetics: on the threshold of a new neurobiology . Nat Rev Genet . 2008;9:341–355
  54. Cook EH , Scherer SW . Copy-number variations associated with neuropsychiatric conditions . Nature . 2008;455:919–923
  55. Cook EH , Courchesne RY , Cox NJ , et al.   Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers . Am J Hum Genet . 1998;62:1077–1083
  56. Manning MA , Cassidy SB , Clericuzio C , et al.   Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum . Pediatrics . 2004;114:451–457
  57. Durand CM , Betancur C , Boeckers TM , et al.   Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders . Nat Genet . 2007;39:25–27
  58. Glessner JT , Wang K , Cai G , et al.   Autism genome-wide copy number variation reveals ubiquitin and neuronal genes . Nature . 2009;459:569–573
  59. Sullivan PF . The genetics of schizophrenia . PLoS Med . 2005;2:e212
  60. Walsh T , McClellan JM , McCarthy SE , et al.   Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia . Science . 2008;320:539–543
  61. Xu B , Roos JL , Levy S , van Rensburg EJ , Gogos JA , Karayiorgou M . Strong association of de novo copy number mutations with sporadic schizophrenia . Nat Genet . 2008;40:880–885
  62. International Schizophrenia Consortium  . Rare chromosomal deletions and duplications increase risk of schizophrenia . Nature . 2008;455:237–241
  63. Kirov G , Grozeva D , Norton N , et al.   Support for the involvement of large copy number variants in the pathogenesis of schizophrenia . Hum Mol Genet . 2009;18:1497–1503
  64. Stefansson H , Rujescu D , Cichon S , et al.   Large recurrent microdeletions associated with schizophrenia . Nature . 2008;455:232–236
  65. Shi YY , He G , Zhang Z , et al.   A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population . Mol Psychiatry . 2008;13:911–913
  66. Friedman JI , Vrijenhoek T , Markx S , et al.   CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy . Mol Psychiatry . 2008;13:261–266
  67. Rujescu D , Ingason A , Cichon S , et al.   Disruption of the neurexin 1 gene is associated with schizophrenia . Hum Mol Genet . 2009;18:988–996
  68. Vrijenhoek T , Buizer-Voskamp JE , van der Stelt I , et al.   Recurrent CNVs disrupt three candidate genes in schizophrenia patients . Am J Hum Genet . 2008;83:504–510
  69. Need AC , Ge D , Weale ME , et al.   A genome-wide investigation of SNPs and CNVs in schizophrenia . PLoS Genet . 2009;5: e1000373.
  70. Lachman HM , Pedrosa E , Petruolo OA , et al.   Increase in GSK3beta gene copy number variation in bipolar disorder . Am J Med Genet B Neuropsychiatr Genet . 2007;144B:259–265
  71. Zhang D , Cheng L , Qian Y , et al.   Singleton deletions throughout the genome increase risk of bipolar disorder . Mol Psychiatry . 2009;14:376–380
  72. McClellan JM , Susser E , King MC . Schizophrenia: a common disease caused by multiple rare alleles . Br J Psychiatry . 2007;190:194–199
  73. Crespi B , Badcock C . Psychosis and autism as diametrical disorders of the social brain . Behav Brain Sci . 2008;31:241–261
  74. De Smith AJ , Tsalenko A , Sampas N , et al.   Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases . Hum Mol Genet . 2007;16:2783–2794
  75. Khashan AS , Abel KM , McNamee R , et al.   Higher risk of offspring schizophrenia following antenatal maternal exposure to severe adverse life events . Arch Gen Psychiatry . 2008;65:146–152
  76. McClellan JM , Susser E , King MC . Maternal famine, de novo mutations, and schizophrenia . JAMA . 2006;296:582–584
  77. St Clair D , Xu M , Wang P , et al.   Rates of adult schizophrenia following prenatal exposure to the Chinese famine of 1959–1961 . JAMA . 2005;294:557–562
  78. Clair DS . Copy number variation and schizophrenia . Schizophr Bull . 2009;35:9–12
  79. Maher B . Personal genomes: the case of the missing herit-ability . Nature . 2008;456:18–21

PII: S1016-3190(09)60039-2

doi: 10.1016/S1016-3190(09)60039-2

Tzu Chi Medical Journal
Volume 21, Issue 3 , Pages 197-203 , September 2009

Article Tools