Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
作者： B. J. O'Roak , L. Vives , W. Fu , J. D. Egertson , I. B. Stanaway
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摘要: Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations 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 this approach, we captured and sequenced 44 genes 2446 ASD probands. discovered 27 events 16 genes, 59% which are predicted to truncate proteins or disrupt splicing. estimate that recurrent disruptive six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, TBL1XR1-may contribute 1% sporadic ASDs. Our data support associations between specific reciprocal subphenotypes (CHD8-macrocephaly DYRK1A-microcephaly) replicate importance β-catenin-chromatin-remodeling network etiology.
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