Towards understanding the genetics of Autism

Harshita Shailesh, Ishita Gupta, Said Sif, Allal Ouhtit*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

15 Citations (Scopus)


Autism spectrum disorder (ASD) includes a group of neurodevelopmental disorders that affect communication skills, social interaction and intellectual ability. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. Early studies focusing on candidate genes have shown that several genes associated with neuronal synaptic function are involved in development of ASD. Linkage studies have identified several single nucleotide polymorphisms (SNPs) associated with ASD, and genome-wide association studies have implicated several loci, but failed to recognize a single specific locus with strong significance, indicating heterogeneity in ASD genetic determinants. Detection of de novo copy number variations and single nucleotide variants in several ASD probands has confirmed the genetic heterogeneity of the disease. More interestingly, next generation sequencing approaches have recently identified novel candidate genes and several point mutations in sporadic ASDs, thus increasing our knowledge of ASD etiology. The current review summarizes the findings of recent studies using genetic and genomic approaches to understand the underlying molecular mechanisms of ASD.

Original languageEnglish
Pages (from-to)412-426
Number of pages15
JournalFrontiers in Bioscience - Elite
Issue number3
Publication statusPublished - Jun 1 2016
Externally publishedYes


  • Autism Spectrum Disorder
  • Genetics
  • Genomics
  • Review

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)


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