The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

Neurons with a faulty copy of SETD1A, a gene tied to autism and schizophrenia, show structural abnormalities and altered connectivity patterns.

Different combinations of common, rare, inherited and spontaneous mutations may explain why traits vary so widely among autistic people.

Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.

Mutations in the autism-linked gene PAX5 underlie a range of traits, including developmental delay, intellectual disability, seizures and autism.

The Rett Syndrome Global Registry is gathering data from people around the world with the rare condition to support clinical trials.

Developmental delay, intellectual disability and behavioral issues are common among people who have mutations in MYT1L, a gene with strong ties to autism.

Mice missing a copy of the gene SENP1 have atypical social behavior likely due to a signaling imbalance in the retrosplenial cortex.