Rare variants that alter the expression of genes in the brain contribute to autism in people who also have a rare autism-linked mutation, according to a new study.
Spectrum: Autism Research News
Autism involves mutations in noncoding portions of the genome in at least 3 percent of people with the condition. The mutations occur in regions that help regulate known autism-linked genes.
The X chromosome holds stronger-than-expected genetic sway over the structure of several brain regions. The genes that may underlie this oversized influence have ties to autism.
As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.
A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.
The largest-yet study of genetic data from autistic people has identified 255 genes associated with the condition.
A technique that expands tissue before spotting and sequencing RNA — the molecular messenger for DNA — enables researchers to see where particular genes are expressed in cells.
The technique enables researchers to sequence the DNA of an intact cell, providing a unique view of the genome’s organization inside the nucleus.
There is not yet a single example of a gene that, when mutated, increases the likelihood of autism but not of other neurodevelopmental conditions, including intellectual disability.