Genetic Causes and Modifiers of Autism Spectrum Disorder

Lauren Rylaarsdam, Alicia Guemez-Gamboa*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

42 Scopus citations

Abstract

Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations. In the past decade, hundreds of genes have been identified that contribute to the serious deficits in communication, social cognition, and behavior that patients often experience. However, these only account for 10–20% of ASD cases, and patients with similar pathogenic variants may be diagnosed on very different levels of the spectrum. In this review, we will describe the genetic landscape of ASD and discuss how genetic modifiers such as copy number variation, single nucleotide polymorphisms, and epigenetic alterations likely play a key role in modulating the phenotypic spectrum of ASD patients. We also consider how genetic modifiers can alter convergent signaling pathways and lead to impaired neural circuitry formation. Lastly, we review sex-linked modifiers and clinical implications. Further understanding of these mechanisms is crucial for both comprehending ASD and for developing novel therapies.

Original languageEnglish (US)
Article number385
JournalFrontiers in Cellular Neuroscience
Volume13
DOIs
StatePublished - Aug 20 2019

Keywords

  • CNV
  • autism spectrum disorder
  • epigenetics
  • gene-environment interaction
  • genetic modifiers

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience

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