Abstract
Autism spectrum disorders (ASD) is a neurodevelopmental disease with complex genetics; however, the genes that are responsible for this disease still remain mostly unknown. Here, we focus on the FOXP family of transcription factors as there is emerging evidence strongly linking these genes to ASD and other genes implicated in ASD. The FOXP family of genes includes three genes expressed in the central nervous system: FOXP1, FOPX2, and FOXP4. This unique group of transcription factors has known functions in brain development as well as the evolution of language. We will also discuss the other genes including transcriptional targets of FOXP genes that have been found to be associated with language and may be important in the pathophysiology of ASD. Finally, we will review the emerging animal models currently being used to study the function of the FOXP genes within the context of ASD symptomology. The combination of gene expression and animal behavior is critical for elucidating how genes such as the FOXP family members are key players within the framework of the developing brain.
Highlights
Autism is characterized by impaired language communication, qualitative impairment in social interactions, as well as restricted repetitive and stereotyped behaviors/interests [1]
Numerous studies have searched for causal genetic factors for autism spectrum disorders (ASD), and the results point to a complex genetic architecture converging on signaling pathways involved in the devel
The focus of this review will be to discuss the most recent genetic findings for ASD within the context of a family of transcription factors linked to language, brain development, and ASD
Summary
Autism is characterized by impaired language communication, qualitative impairment in social interactions, as well as restricted repetitive and stereotyped behaviors/interests [1]. The prevalence rate of autism in the general population is estimated to be 1% [2,3]. There is a strong sex bias in the prevalence rates with ratios of 4:1, favoring males over females [4, 5]. A broader range of associated symptoms is recognized, termed autism spectrum disorders (ASD). The heritability of ASD has been estimated to be ∼90%; making ASD the most heritable of the childhood onset neuropsychiatric disorders [6,7]. The focus of this review will be to discuss the most recent genetic findings for ASD within the context of a family of transcription factors linked to language, brain development, and ASD
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