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原文連結
論文資訊
- 類型：已發表論文
- 日期：2012
摘要
It is well established that autism spectrum disorders (ASD) have a strong 遺傳 component; however, for at least 70% of cases, the underlying 遺傳 cause is unknown(1). Under the hypothesis that de novo 突變s underlie a substantial fraction of the risk for developing ASD in families with no previous history of ASD or related phenotypes-so-called sporadic or simplex families(2,3)-we sequenced all coding regions of the 基因組 (the exome) for parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported(4). Additionally, we also sequenced the exomes of 50 unaffected siblings corresponding to these new (n = 531) and previously reported trios (n = 19)(4), for a total of 677 individual exomes from 209 families. Here we show that de novo point 突變s are overwhelmingl
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