Journal of Clinical Medicine (Mar 2020)

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder

  • Sang Hoon Yoon,
  • Joonhyuk Choi,
  • Won Ji Lee,
  • Jeong Tae Do

DOI
https://doi.org/10.3390/jcm9040966
Journal volume & issue
Vol. 9, no. 4
p. 966

Abstract

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Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD.

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