Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
Spectrum: Autism Research News
Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.
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.
Jacob Vorstman wants to help people who have rare mutations tied to autism, schizophrenia and other neurodevelopmental conditions set expectations about outcomes.
Mice that model 22q11.2 deletion syndrome lack social memory, but that trait can be reversed using a drug that targets the flow of potassium ions in neurons.
A new study pinpoints the genes and cell types that may underlie the atypical brain structure seen in people with genetic conditions linked to autism.
People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study, especially between areas that process sensory information.
Neurons derived from people with 22q11.2 deletion syndrome show deficits in calcium signaling and electrical activity, pointing to possible therapeutic targets.
Brain structure of autistic people with deletions in the chromosomal region 22q11.2 differs from that of autistic people without the deletions.