biostudies-literatureUnknown12(6)Gill PSAutism spectrum disorder (ASD) is a complex neurodevelopmental disorder, with mutations in hundreds of genes contributing to its risk. Herein, we studied lymphoblastoid cell lines (LCLs) from children diagnosed with autistic disorder (<i>n</i> = 10) and controls (<i>n</i> = 7) using RNA and miRNA sequencing profiles. The sequencing analysis identified 1700 genes and 102 miRNAs differentially expressed between the ASD and control LCLs (<i>p</i> ≤ 0.05). The top upregulated genes were <i>GABRA4</i>, <i>AUTS2</i>, and <i>IL27</i>, and the top upregulated miRNAs were <i>hsa-miR-6813-3p</i>, <i>hsa-miR-221-5p</i>, and <i>hsa-miR-21-5p</i>. The RT-qPCR analysis confirmed the sequencing results for randomly selected candidates: <i>AUTS2</i>, <i>FMR1</i>, <i>PTEN, hsa-miR-15a-5p, hsa-miR-92a-3p</iJournal of personalized medicine920https://www.ebi.ac.uk/biostudies/studies/S-EPMC9225282biostudies-literatureIntegrated microRNA-mRNA Expression Profiling Identifies Novel Targets and Networks Associated with Autism.PMC9225282Dweep HVyas KKMcCullough SGill PSWickramasinghe PJRose SPorter-Gill PAFrye REfalseIntegrated microRNA-mRNA Expression Profiling Identifies Novel Targets and Networks Associated with Autism.Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, with mutations in hundreds of genes contributing to its risk. Herein, we studied lymphoblastoid cell lines (LCLs) from children diagnosed with autistic disorder (<i>n</i> = 10) and controls (<i>n</i> = 7) using RNA and miRNA sequencing profiles. The sequencing analysis identified 1700 genes and 102 miRNAs differentially expressed between the ASD and control LCLs (<i>p</i> ≤ 0.05). The top upregulated genes were <i>GABRA4</i>, <i>AUTS2</i>, and <i>IL27</i>, and the top upregulated miRNAs were <i>hsa-miR-6813-3p</i>, <i>hsa-miR-221-5p</i>, and <i>hsa-miR-21-5p</i>. The RT-qPCR analysis confirmed the sequencing results for randomly selected candidates: <i>AUTS2</i>, <i>FMR1</i>, <i>PTEN, hsa-miR-15a-5p, hsa-miR-92a-3p</i2022-01-01T00:00:00Z2022 Jun2025-04-18T13:33:18.974Z2025-04-06T23:18:28.137ZS-EPMC92252823574370510.3390/jpm12060920