Journal
SCIENCE
Volume 320, Issue 5875, Pages 539-543Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1155174
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Funding
- Howard Hughes Medical Institute Funding Source: Medline
- Intramural NIH HHS Funding Source: Medline
- NCRR NIH HHS [UL1 RR025014, RR000046, M01 RR000046, RR025014] Funding Source: Medline
- NICHD NIH HHS [R01 HD043569, HD043569] Funding Source: Medline
- NIMH NIH HHS [MH061528, U01 MH061464, U01 MH061528, MH061355, MH061464] Funding Source: Medline
- NINDS NIH HHS [U24 NS052108, NS052108] Funding Source: Medline
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Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants contribute to the illness. Microdeletions and microduplications >100 kilobases were identified by microarray comparative genomic hybridization of genomic DNA from 150 individuals with schizophrenia and 268 ancestry-matched controls. All variants were validated by high- resolution platforms. Novel deletions and duplications of genes were present in 5% of controls versus 15% of cases and 20% of young- onset cases, both highly significant differences. The association was independently replicated in patients with childhood- onset schizophrenia as compared with their parents. Mutations in cases disrupted genes disproportionately from signaling networks controlling neurodevelopment, including neuregulin and glutamate pathways. These results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia.
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