De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

@inproceedings{Kirov2012DeNC,
  title={De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia},
  author={George Kirov and Andrew J. Pocklington and Peter A. Holmans and Dobril Ivanov and M Ikeda and Douglas M. Ruderfer and J L Moran and K D Chambert and Draga Toncheva and L Georgieva and Dimitrinka Grozeva and Marija Fjodorova and Rl Wollerton and E Rees and Ivan Nikolov and Louie N van de Lagemaat and {\`A}lex Bay{\'e}s and Esteve Fern{\'a}ndez and Pall I. Olason and Yvonne B{\"o}ttcher and Noriyuki Komiyama and Mamudu Ojonugwa Collins and J Choudhary and K. Stef{\'a}nsson and H Stefansson and Seth Grant and S. Purcell and Pamela Sklar and M. C. O'Donovan and Michael J. Owen},
  booktitle={Molecular Psychiatry},
  year={2012}
}
A small number of rare, recurrent genomic copy number variants (CNVs) are known to substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity in people with schizophrenia and other neurodevelopmental phenotypes to which these CNVs contribute, CNVs with large effects on risk are likely to be rapidly removed from the population by natural selection. Accordingly, such CNVs must frequently occur as recurrent de novo mutations. In a sample of 662 schizophrenia… CONTINUE READING

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