The rare variants are also linked to ADHD and Tourette syndrome, two other conditions that disproportionately affect boys and men.
Spectrum: Autism Research News
Tag: rare variants
Common variants in five regions of the genome may determine whether someone has one condition versus the other.
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
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.
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.