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

Published online by Cambridge University Press:  02 January 2018

S. Balan ,
Y. Iwayama ,
T. Toyota ,
M. Toyoshima ,
M. Maekawa  and
T. Yoshikawa
S. Balan
Affiliation:
Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
Y. Iwayama
Affiliation:
Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
T. Toyota
Affiliation:
Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
M. Toyoshima
Affiliation:
Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
M. Maekawa
Affiliation:
Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
T. Yoshikawa*
Affiliation:
Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
*
Takeo Yoshikawa, MD, PhD, Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-city, Saitama 351-0198, Japan. Email: [email protected]
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Summary

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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 psychosisfree. 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.

Type
Short reports
Information
The British Journal of Psychiatry , Volume 204 , Issue 5 , May 2014 , pp. 398 - 399
Copyright
Copyright © Royal College of Psychiatrists, 2014 

Footnotes

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.

Declaration of interest

None.

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