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Hundreds of genes have been linked to autism. What scientists haven't understood is what they have in common.
But now, they may be closer to an answer.
A new study suggests that many autism-linked genes are connected through a shared biological network and this could help explain why autism is diagnosed much more often in males than females.
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The research, published in the journal Nature, focused on autism spectrum disorder (ASD), a neurodevelopmental condition characterized by differences in social communication as well as restricted or repetitive behaviors.
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Although autism is highly heritable, researchers have identified hundreds of genes that can increase a person's risk of developing it, leaving a longstanding question: how can so many different genetic changes result in similar outcomes?
A team led by researchers at Boston Children's Hospital discovered that many of these seemingly unrelated genes may converge on the same genetic pathways.
By studying autism-associated genes in human cell models, the researchers found that disrupting a single autism-linked gene often triggered changes in many others.
Lead author Rebecca Andersen, Ph.D., described the phenomenon as "transcriptomic convergence," referring to the tendency of different autism-related mutations to produce similar patterns of genetic activity.
"When I started this project, I thought that by disrupting several autism-associated genes one at a time, we would be able to group subsets of them together based on how similar or different the effects were," Andersen told Newsweek.
Instead, nearly all the gene disruptions tested produced similar effects on overall gene expression, particularly affecting other genes linked to autism.
"This suggests that autism-associated genes are tightly interconnected with one another, such that disrupting one of them can have rippling effects that disrupt many others, and this begins to explain how so many different genes can play a role in autism," Andersen said.
Different Mutations, Similar Characteristics
Shebna N. Osanmoh, a board-certified psychiatric mental health nurse practitioner at Savant Care who was not involved in the study, said the findings could help explain why people with different genetic mutations can share similar autism characteristics.
"It does not, however, tell us how [a] child may progress or what kind of interventions they may require," Osanmoh told Newsweek.
The study also explored another enduring mystery in autism research: the so-called "female protective effect."
Autism is diagnosed approximately four to five times more frequently in males than females, leading scientists to suspect there may be biological factors that help protect females from developing the condition, even when they carry autism-associated genetic variants.
The researchers identified a gene called ZFX as a potential key player. Located on the X chromosome, ZFX belongs to a small group of genes that escape a process known as X chromosome inactivation.
While most genes on one of a female's two X chromosomes are effectively switched off, escapee genes such as ZFX remain active on both chromosomes. As a result, females generally produce higher levels of the ZFX protein than males.
"This makes ZFX a particularly strong candidate for contributing to the female protective effect, but there is still more work to be done to fully understand the role of ZFX," Andersen said. "Understanding how ZFX and other genes differ between males and females will not only give us important insights into the female protective effect in autism, but it will also help to illuminate some of the fundamental principles that are critical for building the human brain."
Osanmoh said the findings should not change the way families approach the needs of an autistic child.
"It’s great to know about the biology behind it, but they should continue to receive interventions based on how they communicate and go about their daily life," he said.
Reference
Andersen, R.E., Talukdar, M., Sakamoto, T. et al. Transcriptomic convergence and the female protective effect in autism. Nature (2026). https://doi.org/10.1038/s41586-026-11236-6
Contact Newsweek editors on this story: Kara Dolman and Tony Phillips.
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