22q11.2 deletion carriers and schizophrenia-associated novel variants
22q11.2 deletion carriers and schizophrenia-associated novel variants
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DOI：
10.1192/bjp.bp.113.138420
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发表时间：
2014-05-01
影响因子：
10.5
通讯作者：
Yoshikawa, T.
中科院分区：
文献类型：
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作者：
Balan, S.;Iwayama, Y.;Yoshikawa, T.
22q11.2缺失携带者的精神分裂症风险很高，但不完全，这表明可能存在其他遗传缺陷。我们对两个22q11.2缺失的个体进行了全外显子组测序，一个患有精神分裂症，另一个没有精神病。结果揭示了与精神分裂症患者的神经元功能相关的新型遗传变异（移码：KAT 8，APOH和SNX 31;无义：EFCAB 11和CLVS 2）。这项研究为更全面地了解精神分裂症的变异剂量和遗传结构铺平了道路。
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.