The characterization of genetic risk factors associated with autism

Autism is a severe neurodevelopmental disorder. Development of a molecular diagnostic screen is an imperative step towards personalized treatments. Gene expression profiling using buccal samples was employed to identify susceptibility genes and dysregulated signaling pathways. Analyses of differentially regulated genes revealed numerous genes that were associated with development and function of the nervous and immune systems, circadian rhythm, and ERBB signaling. Amongst the affected participants there was a patient with a 3p14.1-p13 deletion, where FOXP1 is located. FOXP2 mutations are responsible for human speech and language disorders. Since FOXP1, FOXP2, and FOXP4 require dimerization for transcriptional activity, investigating the FOXP1/2/4 molecular network provides insight into the neural mechanisms behind language impairments in autism. HEK293 cells were transfected with FOXP1/2/4 constructs. QRT-PCR was used to evaluate mRNA expression of FOXP2 target genes. Results suggest that specific combinations of FOXP1/2/4 dimers may influence the transcription of target genes involved in language acquisition.