is a complex, heterogeneous neurobehavioral disorder with many causes and varying degrees of severity. Some genetic implications related to autism
may involve gene-regulatory processes such as alternative splicing
. Here, we assess the feasibility of profiling exon-level gene expression in autism
using the Affymetrix Human exon 1.0 ST array.
We examined lymphoblastoid cell line-derived RNAs from five patients with autism
compared with five controls.
Analysis of variance and Bonferroni multiple test correction identified 57 genes exhibiting differential exon-level expression, suggesting potential changes in the resultant alternatively spliced transcripts in autism
compared with controls. Genes with differentially expressed exons included CYFIP1
, a previously reported autism
susceptibility gene. Furthermore, several genes recently reported to have deregulated alternative splicing
brain samples showed differential exon expression in our autism
The paucity of autism
brain samples and extensive phenotypic heterogeneity of autism
demands finding ways to also identify autism
-related genomic events in accessible nonbrain resources, which may contribute in biomarker identifications. This proof-of-concept study shows that the analysis of alternative splicing
in lymphoblastoid cell line samples has a potential to reveal at least a subset of brain-related deregulation of splicing machinery that might be implicated in autism