The diverse genetic landscape of neurodevelopmental disorders
Wen F Hu1, Maria H Chahrour, Christopher A Walsh
1Division 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: wenfanhu@hms.harvard.edu , maria.chahrour@childrens.harvard.edu , christopher.walsh@childrens.harvard.edu.
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.
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