People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
A new approach for delivering gene therapy to the brain reduces nerve damage in primates and could help make gene therapies for conditions related to autism safer.
Mice missing a copy of MAGEL2 have trouble discerning between a familiar mouse and an unfamiliar one; treating them with the social hormone vasopressin reverses this deficit.
Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.
Mutations in the autism-linked gene DNMT3A lead to the behaviors and gene-expression changes seen in different neurodevelopmental conditions.
Female mice missing a copy of the autism-linked gene MECP2 in a specific set of inhibitory neurons have a hard time heeding pups’ calls and herding litters.
Mutations in two genes linked to autism and intellectual disability boost the immune response and cause synapse dysfunction.
People and mice with only one working copy of the autism gene SYNGAP1 may have trouble processing sights and sounds.