Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study.
Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study.
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对具有自闭症谱系障碍同卵双胞胎的家庭进行全外显子组测序和后续研究。
DOI：
10.1016/j.psychres.2015.07.018
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
染矢俊幸
中科院分区：
文献类型：
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作者：
Egawa J;Watanabe Y;Wang C;Inoue E;Sugimoto A;Sugiyama T;Igeta H;Nunokawa A;Shibuya M;Kushima I;Orime N;Hayashi T;Okada T;Uno Y;Ozaki N;Someya T;染矢俊幸
在257例自闭症谱系障碍(ASD)患者、677例精神分裂症患者和667例对照中，通过全外显子测序未发现两个截断变异(WDR90 V1125fs和EFCAB5L1210fs)。因此，这些变异是在该家族中唯一发现的，这表明罕见的截断变异可能在ASD的遗传病因学中起作用，至少在ASD患者的子集中是这样。
Two truncating variations (WDR90 V1125fs andEFCAB5L1210fs), identified by whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), were not detected in 257 ASD patients, 677 schizophrenia patients or 667 controls in a follow-up study. Thus, these variations were exclusively identified in the family, suggesting that rare truncating variations may have a role in the genetic etiology of ASD, at least in a subset of ASD patients.