Gene expression studies in autism: moving from the genome to the transcriptome and beyond

Neurobiology of Disease
Irina Voineagu

Abstract

Autism is a clinically and genetically heterogeneous neurodevelopmental disorder. Although multiple genes, risk alleles and copy number variants (CNVs) have been implicated in ASD, none of the currently established genetic causes of ASD accounts for more than 2% of the cases, and a genetic diagnosis is not yet possible for most autism patients. Thus, advancing our understanding of autism genetics requires the integration of genetic information with information on genome function, as provided by transcriptomic data. We review recent autism transcriptome studies, in the context of current knowledge of autism genetics, and discuss the utility of gene expression data in evaluating the functional relevance of genetic variants and identifying common molecular pathways dysregulated in autism.

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