Male mice with a genetic variant linked to autism vocalize less in social situations than controls do during encounters with female mice. The findings help to characterize the effects of variants in the 16p11.2 chromosomal region.
Spectrum: Autism Research News
Tag: copy number variation
By mapping the connections between autism genes, researchers are finding clues to the disorder’s origins. The key, they say, is to begin without bias.
Children with too many or too few copies of certain genes are more likely to have autism, as are children born to women who battled a severe infection while pregnant. These seemingly disparate risk factors may work together to worsen autism symptoms.
Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.
A new tool helps predict whether large DNA duplications and deletions, common among people with autism, are harmful or benign.
A new database bridges the gap between candidate genes identified by sequencing studies and mouse models that can help reveal the genes’ role in various disorders. Researchers presented the tool today at the 2014 Society for Neuroscience annual meeting in Washington, D.C.
Stephan Sanders has quickly climbed the ranks in autism research. At 35, he’s already credited with bringing a measure of clarity to autism genetics. And that’s just one feat in a long and accomplished resume.
Deletion or duplication of 16p11.2, a chromosomal region linked to autism, may trigger symptoms via the interactions of genes both within and outside the region at a key point in development. Researchers presented these preliminary results Sunday at the 2014 American Society of Human Genetics Annual Meeting in San Diego.