Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.
Spectrum: Autism Research News
Tag: rare variants
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.
Common and rare variants in or near autism-associated genes can have opposite effects on cognition.
The first animal model of MYT1L syndrome suggests that fast-maturing neurons lead to the unusually small brains, social deficits and other traits seen in people with the condition.
When Holly Stessman isn’t probing autism genes, she is tending to her flock of chickens or seeking out the next great sci-fi movie.
A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.