Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history
Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history
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DOI：
10.1192/bjp.bp.111.093849
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发表时间：
2011-09
影响因子：
10.5
通讯作者：
M. Toyosima;M. Maekawa;T. Toyota;Y. Iwayama;Makoto Arai;T. Ichikawa;M. Miyashita;Tadao Arinami;M. Itokawa;Takeo Yoshikawa
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文献类型：
--
作者：
M. Toyosima;M. Maekawa;T. Toyota;Y. Iwayama;Makoto Arai;T. Ichikawa;M. Miyashita;Tadao Arinami;M. Itokawa;Takeo Yoshikawa
22q11.2缺失是精神分裂症最突出的已知遗传风险因素，但其突变率最多约为50%，表明疾病进展需要其他风险因素。我们检查了一名女性精神分裂症与这种缺失的危险因素。她有高血浆戊糖苷水平（“羰基应激”）和负责基因GLO 1的移码突变。她也有一个恒定的外斜视，所以我们检查了PHOX 2B基因与精神分裂症和斜视，并检测到5-丙氨酸缺失。我们认为，这些遗传缺陷的组合可能已经超过了精神分裂症表现的阈值。
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.