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Updated: Jun 20, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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具有进化特征的非编码区域的罕见变异有助于自闭症谱系障碍风险

Taehwan Shin1, Janet H T Song1, Michael Kosicki2

  • 1Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Allen Discovery Center for Human Brain Evolution, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.

Cell genomics
|July 17, 2024
PubMed
概括

非编码区域的罕见遗传变异,包括人类加速区域 (HAR) 和神经增强剂,在具有共同祖先的家庭中显著促进自闭症谱系障碍 (ASD) 风险. 这些发现强调了基因调节在ASD病因学中的作用.

关键词:
这就是IL1RAPL1的原因.一个OTX1一个OTX1这是一个SIM1SIM.维斯塔增强剂是一种增强剂.自闭症谱系障碍 自闭症谱系障碍卡姆普拉 (CAMPRA) 是一个地方.有血缘关系的家庭.保存的神经增强剂是一种神经增强剂.人类加速地区地区.非编码地区地区.

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