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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries  期刊论文  

  • 编号：
    d570359a-c08f-4617-92d1-907bfad63c13
  • 作者：
    Talkowski, Michael E.[1,5,7] Rosenfeld, Jill A.[8] Blumenthal, Ian[1] Pillalamarri, Vamsee[1] Chiang, Colby[1] Heilbut, Adrian[1] Ernst, Carl[1] Hanscom, Carrie[1] Rossin, Elizabeth[1,2,7] Lindgren, Amelia M.[9,10,11] Pereira, Shahrin[9,10,11] Ruderfer, Douglas[1,7] Kirby, Andrew[1,2,7] Ripke, Stephan[1,2,7] Harris, David J.[12] Lee, JiHyun[1] Ha, Kyungsoo[14] Kim, HyungGoo[15] Solomon, Benjamin D.[16] Gropman, Andrea L.[17,18] Lucente, Diane[1] Sims, Katherine[1] Ohsumi, Toshiro K.[3] Borowsky, Mark L.[3] Loranger, Stephanie[19] Quade, Bradley[4] Lage, Kasper[2,7,20,21,22] Miles, Judith[23,24,25] Wu, BaiLin[4,13,26,27] Shen, Yiping[1,4,13,28] Neale, Benjamin[1,2,7] Shaffer, Lisa G.[8] Daly, Mark J.[1,2,7,19] Morton, Cynthia C.[4,7,9,10,11] Gusella, James F.[1,6,7,19]
  • 语种：
    英文
  • 期刊：
    CELL ISSN：0092-8674 2012 年 149 卷 3 期 ; APR 27
  • 收录：
     
  • 摘要：

    Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e. g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e. g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e. g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3). We also discovered among neurodevelopmental cases a profoundly increased burden of copy-number variants from these 33 loci and a significant enrichment of polygenic risk alleles from genome-wide association studies of autism and schizophrenia. Our findings suggest a polygenic risk model of autism and reveal that some neurodevelopmental genes are sensitive to perturbation by multiple mutational mechanisms, leading to variable phenotypic outcomes that manifest at different life stages.

  • 推荐引用方式
    GB/T 7714：
    Talkowski Michael E.,Rosenfeld Jill A.,Blumenthal Ian, et al. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries [J].CELL,2012,149(3).
  • APA：
    Talkowski Michael E.,Rosenfeld Jill A.,Blumenthal Ian,Pillalamarri Vamsee,&Gusella James F..(2012).Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries .CELL,149(3).
  • MLA：
    Talkowski Michael E., et al. "Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries" .CELL 149,3(2012).
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