The Diverse Genetic Landscape of Neurodevelopmental Disorders

Wen F. Hu; Maria H. Chahrour; Christopher A. Walsh

doi:10.1146/annurev-genom-090413-025600

Annual Review of Genomics and Human Genetics

Volume 15, 2014

Review Article

The Diverse Genetic Landscape of Neurodevelopmental Disorders

Wen F. Hu^1,2,3, Maria H. Chahrour^1,4,6, and Christopher A. Walsh^1,4,5,6
View Affiliations Hide Affiliations

Affiliations: 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: [email protected], [email protected], [email protected] ²Program in Neuroscience, ³Harvard-MIT MD-PhD MSTP Program, ⁴Department of Pediatrics, and ⁵Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115 ⁶Autism Consortium, Boston, Massachusetts 02115
Vol. 15:195-213 (Volume publication date August 2014) https://doi.org/10.1146/annurev-genom-090413-025600
© Annual Reviews

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.

Keyword(s): autism, brain malformations, neurodevelopment, somatic mutations

Article metrics loading...

/content/journals/10.1146/annurev-genom-090413-025600

2014-08-31

2024-10-07