Rare chromosomal deletions and duplications increase risk of schizophrenia

  title={Rare chromosomal deletions and duplications increase risk of schizophrenia},
  author={J. Stone and M. O'Donovan and H. Gurling and G. Kirov and D. Blackwood and A. Corvin and N. Craddock and M. Gill and C. Hultman and P. Lichtenstein and A. McQuillin and C. Pato and D. Ruderfer and M. Owen and D. Clair and P. Sullivan and P. Sklar and S. Purcell and J. Korn and S. MacGregor and D. Morris and C. O'Dushlaine and M. Daly and P. Visscher and P. Holmans and E. Scolnick and N. Williams and L. Georgieva and I. Nikolov and N. Norton and H. Williams and D. Toncheva and V. Milanova and E. Thelander and E. Kenny and J. Waddington and K. Choudhury and S. Datta and J. Pimm and S. Thirumalai and V. Puri and Robert Krasucki and J. Lawrence and D. Quested and N. Bass and D. Curtis and C. Crombie and G. Fraser and Soh Leh Kwan and N. Walker and W. Muir and K. McGhee and B. Pickard and P. Malloy and A. Maclean and M. Beck and M. Pato and H. Medeiros and F. Middleton and C. Carvalho and C. Morley and A. Fanous and D. Conti and J. Knowles and C. Ferreira and A. Macedo and M. Azevedo and S. McCarroll and K. Chambert and C. Gates and S. Gabriel and Scott Mahon and K. Ardlie},
Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia and also in neurodevelopmental disorders, but large-scale genome-wide surveys have not been performed. Here we report a genome-wide survey of… Expand
Microdeletions of 3q29 confer high risk for schizophrenia.
Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
The phenotypic manifestations of rare CNVs in schizophrenia
High rate of disease-related copy number variations in childhood onset schizophrenia
Genomic copy number variation in schizophrenia
Copy number variation in schizophrenia in Sweden
Copy number variations in neurodevelopmental disorders
Strong synaptic transmission impact by copy number variations in schizophrenia


Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder
  • R. Flomen, D. Collier, +4 authors A. Makoff
  • Medicine
  • American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2006
Structural variation of chromosomes in autism spectrum disorder.
Chromosome 22 deletion syndrome and schizophrenia.
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Strong Association of De Novo Copy Number Mutations with Autism
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy