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Br J Psychiatry. 2014;204:398-9. doi: 10.1192/bjp.bp.113.138420. Epub 2014 Jan 30.

22q11.2 deletion carriers and schizophrenia-associated novel variants.

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S. Balan, PhD, Y. Iwayama, MS, T. Toyota, MD, PhD, M. Toyoshima, PhD, M. Maekawa, MD, PhD, T. Yoshikawa, MD, PhD, Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan.


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.

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