神经发育障碍的多样遗传格局。
The diverse genetic landscape of neurodevelopmental disorders.
作者信息
Hu Wen F, Chahrour Maria H, Walsh Christopher A
机构信息
Division of Genetics and Genomics, Department of Medicine; Manton Center for Orphan Disease Research; and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115; email:
出版信息
Annu Rev Genomics Hum Genet. 2014;15:195-213. doi: 10.1146/annurev-genom-090413-025600.
Abstract
Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.
摘要
在过去几年中，基因工具和测序技术的进步极大地扩展了我们对神经发育障碍遗传学的理解。最近对结构性脑畸形、认知和神经精神疾病以及局限性皮质发育异常的高通量测序分析揭示了超越经典孟德尔遗传模式的多样遗传格局。神经发育障碍的潜在遗传原因涉及许多对正常大脑发育至关重要的细胞生物学途径。
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