Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
What these genes do and how they affect autism depends on when in development they’re studied, despite what classic ‘gene ontology’ analyses say.
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
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.
The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.
Women who carry genetic variants tied to autism have an elevated chance of experiencing pregnancy-related events linked to the condition in their children.
By breaking rodent vocalizations into parts, TrackUSF distinguishes rats with mutations in the SHANK3 gene from their wildtype counterparts.
The method, called Orgo-Seq, reveals that a deletion of genes on chromosome 16 increases the proportion of immature neurons and neural precursors in brain organoids derived from people with the mutation.
About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.