The diverse genetic landscape of neurodevelopmental disorders

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.

Keywords: autism; brain malformations; neurodevelopment; somatic mutations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Cerebral Cortex / growth & development
  • Cerebral Cortex / metabolism
  • Cerebral Cortex / pathology*
  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / pathology
  • Cytoskeleton / genetics
  • Cytoskeleton / pathology
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Fingers / abnormalities
  • Fingers / pathology
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Malformations of Cortical Development / genetics*
  • Malformations of Cortical Development / pathology
  • Microcephaly / genetics
  • Microcephaly / pathology
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / pathology
  • Myopia / genetics
  • Myopia / pathology
  • Neurons / metabolism
  • Neurons / pathology*
  • Obesity / genetics
  • Obesity / pathology
  • Retinal Degeneration

Supplementary concepts

  • Cohen syndrome