Genome sequences from a research cohort of autistic African children and their families have revealed more than 4 million novel variants, some of which occur in genes not previously linked to the condition.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Most of the large, spontaneous genetic mutations tied to autism are passed down from fathers. But, unlike with smaller mutations, a parent’s age is unlikely to up the rate at which they occur.
People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.
Autistic children’s traits track with subtle, autism-like behaviors in their mothers; women with these traits may also carry a genetic predisposition to the condition.
A gene therapy for Angelman syndrome stands at the forefront of efforts to treat autism-linked conditions that stem from single genes.
Neurons derived from people with 22q11.2 deletion syndrome show deficits in calcium signaling and electrical activity, pointing to possible therapeutic targets.
Mice missing an autism gene groom themselves more than usual and have altered circadian rhythms after nighttime exposure to light.
Atypical development of a particular type of neuron explains the structural similarities seen in the brains of people with autism, schizophrenia and other conditions, according to a new study.
Protecting the privacy of autistic people and their families faces new challenges in the era of big data.