22q11.2 deletion carriers and schizophrenia-associated novel variants
S. Balan, Y. Iwayama, T. Toyota, M. Toyoshima, M. Maekawa, T. Yoshikawa
  • Declaration of interest



The penetrance of schizophrenia risk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with schizophrenia and the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in schizophrenia.


  • Funding

    This study was supported in part by Grants-in-Aid for Scientific Research, and by Grant-in-Aid for Scientific Research on Innovative Areas, from the JSPS of Japan. In addition, this study was supported by RIKEN Brain Science Institute Funds. A portion of this study is the result of the ‘Development of biomarker candidates for social behavior’ project, carried out under the Strategic Research Program for Brain Sciences by the MEXT ministry of Japan.

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