本頁只刊出中文翻譯與中文說明；英文原文請見下方原文連結。
原文連結
論文資訊
- 類型：已發表論文
- 日期：2012
摘要
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo 突變s but few recurrently disrupted genes. We therefore developed a modified molecular inversion probe method enabling ultra-low-cost candidate gene resequencing in very large cohorts. To demonstrate the power of this approach, we captured and sequenced 44 candidate genes in 2446 ASD probands. We discovered 27 de novo events in 16 genes, 59% of which are predicted to truncate 蛋白質s or disrupt splicing. We estimate that recurrent disruptive 突變s in six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1-may contribute to 1% of sporadic ASDs. Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a beta-ca
※ 此為已發表論文，全文需透過期刊付費取得