التفاصيل البيبلوغرافية
| العنوان: |
Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history. |
| المؤلفون: |
Toyosima, M., Maekawa, M., Toyota, T., Iwayama, Y., Arai, M., Ichikawa, T., Miyashita, M., Arinami, T., Itokawa, M., Yoshikawa, T. |
| المصدر: |
British Journal of Psychiatry; Sep2011, Vol. 199 Issue 3, p245-246, 2p |
| مصطلحات موضوعية: |
SCHIZOPHRENIA risk factors, GENETICS, DISEASE progression, GENETIC mutation, GENES |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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