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Mutations in Top Autism Gene Linked to Changes in Brain Structure

March 13, 2020

People with mutations in a gene called TBR1 have unusual features in several brain regions, along with autism traits and developmental delay, according to a new study. TBR1encodes a protein that is involved in brain development. It controls the expression of several other autism-linked genes that lay out the structure of the cerebral cortex, the brain's outer layer and locus of higher cognition. Studies in mice have suggested that deletion or mutation of TBR1 results in structural abnormalities in the brain. The layers of the cerebral cortex in these mice may be disorganized, and connections in the amygdala - a structure involved in processing emotions - may be missing. Read More