Association of genes with phenotype in autism spectrum disorder

Sabah Nisar, Sheema Hashem, Ajaz A. Bhat, Najeeb Syed, Santosh Yadav, Muhammad Waqar Azeem, Shahab Uddin, Puneet Bagga, Ravinder Reddy, Mohammad Haris

Research output: Contribution to journalReview article


Autism spectrum disorder (ASD) is a genetic heterogeneous neurodevelopmental disorder that is characterized by impairments in social interaction and speech development and is accompanied by stereotypical behaviors such as body rocking, hand flapping, spinning objects, sniffing and restricted behaviors. The considerable significance of the genetics associated with autism has led to the identification of many risk genes for ASD used for the probing of ASD specificity and shared cognitive features over the past few decades. Identification of ASD risk genes helps to unravel various genetic variants and signaling pathways which are involved in ASD. This review highlights the role of ASD risk genes in gene transcription and translation regulation processes, as well as neuronal activity modulation, synaptic plasticity, disrupted key biological signaling pathways, and the novel candidate genes that play a significant role in the pathophysiology of ASD. The current emphasis on autism spectrum disorders has generated new opportunities in the field of neuroscience, and further advancements in the identification of different biomarkers, risk genes, and genetic pathways can help in the early diagnosis and development of new clinical and pharmacological treatments for ASD.

Original languageEnglish
Pages (from-to)10742-10770
Number of pages29
Issue number22
Publication statusPublished - 1 Jan 2019



  • Gene transcription
  • Genetic variants
  • Neuronal activity
  • Signaling pathways
  • Synaptic plasticity

ASJC Scopus subject areas

  • Ageing
  • Cell Biology

Cite this

Nisar, S., Hashem, S., Bhat, A. A., Syed, N., Yadav, S., Azeem, M. W., Uddin, S., Bagga, P., Reddy, R., & Haris, M. (2019). Association of genes with phenotype in autism spectrum disorder. Aging, 11(22), 10742-10770.