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Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history

  • M. Toyosima (a1), M. Maekawa (a1), T. Toyota (a1), Y. Iwayama (a1), M. Arai (a2), T. Ichikawa (a2), M. Miyashita (a2), T. Arinami (a3), M. Itokawa (a4) and T. Yoshikawa (a5)...

Summary

The 22q11.2 deletion is the most prominent known genetic risk factor for schizophrenia, but its penetrance is at most approximately 50% suggesting that additional risk factors are required for disease progression. We examined a woman with schizophrenia with this deletion for such risk factors. She had high plasma pentosidine levels (‘carbonyl stress’) and a frameshift mutation in the responsible gene, GLO1. She also had a constant exotropia, so we examined the PHOX2B gene associated with both schizophrenia and strabismus, and detected a 5-alanine deletion. We propose that the combination of these genetic defects may have exceeded the threshold for the manifestation of schizophrenia.

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Copyright

Corresponding author

Motoko Maekawa, Laboratory for Molecular Psychiatry RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-city, Saitama 351-0198, Japan. Email: mmaekawa@brain.riken.jp

Footnotes

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These two authors contributed equally to this work.

This work was supported by RIKEN BSI Funds, and a part of this study is the result of ‘Development of biomarker candidates for social behavior’ carried out under the Strategic Research Program for Brain Sciences by the MEXT of Japan.

Declaration of interest

None.

Footnotes

References

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1 Karayiorgou, M, Simon, TJ, Gogos, JA. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci 2010; 11: 402–16.
2 American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (3rd edn, revised) (DSM–III–R). APA, 1987.
3 Arinami, T, Ohtsuki, T, Takase, K, Shimizu, H, Yoshikawa, T, Horigome, H, et al. Screening for 22q11 deletions in a schizophrenia population. Schizophr Res 2001; 52: 167–70.
4 Arai, M, Yuzawa, H, Nohara, I, Ohnishi, T, Obata, N, Iwayama, Y, et al. Enhanced carbonyl stress in a subpopulation of schizophrenia. Arch Gen Psychiatry 2010; 67: 589–97.
5 Toyota, T, Yoshitsugu, K, Ebihara, M, Yamada, K, Ohba, H, Fukasawa, M, et al. Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B. Hum Mol Genet 2004; 13: 551–61.
6 Vassos, E, Collier, DA, Holden, S, Patch, C, Rujescu, D, St Clair, D, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet 2010; 19: 3477–81.
7 Thornalley, PJ. The glyoxalase system in health and disease. Mol Aspects Med 1993; 14: 287371.
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Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history

  • M. Toyosima (a1), M. Maekawa (a1), T. Toyota (a1), Y. Iwayama (a1), M. Arai (a2), T. Ichikawa (a2), M. Miyashita (a2), T. Arinami (a3), M. Itokawa (a4) and T. Yoshikawa (a5)...
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