New horizons for molecular genetics diagnostic and research in autism spectrum disorder

Nader Al-Dewik, Mohammed Alsharshani

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinctive abnormalities of human cognitive functions, social interaction, and speech development.Nowadays, several genetic changes including chromosome abnormalities, genetic variations, transcriptional epigenetics, and noncoding RNA have been identified in ASD. However, the association between these genetic modifications and ASDs has not been confirmed yet.The aim of this review is to summarize the key findings in ASD from genetic viewpoint that have been identified from the last few decades of genetic and molecular research.
Original languageEnglish
Title of host publicationPersonalized food intervention and therapy for autism spectrum disorder management
EditorsM. Mohamed Essa, M. Walid Qoronfleh
Place of PublicationCham, Switzerland
PublisherSpringer Nature
Pages43-81
ISBN (Print)9783030304010
DOIs
Publication statusE-pub ahead of print - 1 Feb 2020
Externally publishedYes

Publication series

NameAdvances in Neurobiology
PublisherSpringer Nature
Number24
ISSN (Print)2190-5215
ISSN (Electronic)2190-5223

Keywords

  • ASD
  • Biological sciences
  • CNV
  • Chromosome abnormalities
  • Epigenetic changes and noncoding RNA
  • Rare variants inherited and de novo
  • SNPs

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