Introduction to the Special Section on the Genetics of Autism

Abstract

Genetic contributions to the etiology of autism have long been recognized in autism research. However, many aspects of how genetic and genomic factors influence the development and progression of autism remain poorly understood and require further investigation. A wide range of approaches can be employed in this pursuit, including studies of human cohorts, model systems, and detailed mechanistic research at both cellular and organismal levels. To broaden the scope of studies published in Autism Research related to the genetics of autism, we issued a call for manuscripts to be included in a special issue. Here, we present six comprehensive studies that utilize diverse approaches to investigate the genetic mechanisms underlying autism. Two of these studies (Arutiunian et al. 2025; Hudac et al. 2025) focused primarily on human subjects. One of them (Hudac et al. 2025) examined visual and auditory attention in autistic individuals with monogenic forms of autism—carrying variants in either DYRK1A or SCN2A—using eye tracking and electroencephalography (EEG). They found distinct behavioral outcomes depending on the specific genetic variant. The other study (Arutiunian et al. 2025) investigated a separate cohort of autistic individuals with a particular single nucleotide polymorphism in CNTNAP2, identifying an association with language impairments. Three manuscripts (He et al. 2025; Nishizaki et al. 2025; Rojas et al. 2025) combined research in both human subjects and model systems. One study (He et al. 2025) discovered novel de novo variants in NAA15 associated with autism and conducted detailed studies in loss-of-function mouse models, revealing a role for NAA15 in early brain development. Another study (Nishizaki et al. 2025) identified new genes associated with autism spectrum disorder with disproportionate megalencephaly (ASD-DM) in human cohorts and explored the function of one of these genes, YTHDF2, in zebrafish models. Their findings showed changes in brain size and gene expression patterns consistent with the observed phenotypes. The third manuscript (Rojas et al. 2025) reported altered levels of mitochondrial DNA (mtDNA) in individuals with autism and used cell lines to investigate the role of specific genes involved in mtDNA replication, although no direct correlation was found between gene expression and mtDNA levels. Finally, one other report (Co et al. 2025) characterized the functional implications of a specific mouse genetic tool related to the high-confidence autism gene TBR1. They found that this mouse line, while originally designed for another purpose, inadvertently provides a valuable model for studying TBR1 dosage effects on brain development. Collectively, these studies highlight the diverse genetic approaches being used to advance our understanding of autism biology. The editorial team at Autism Research remains committed to expanding the scope of genetic research we publish and encourages researchers to submit their manuscripts for consideration.

The author declares no conflicts of interest.