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.

To characterize people who carry deletions in 16p11.2 and 15q13.3, genetic regions linked to autism, two studies published this summer looked in detail at dozens of people with either deletion. The studies found that deletions in these regions lead to diverse symptoms that only sometimes include autism. 

Cell biologist Nicholas Katsanis explains why zebrafish have been key in studying a chromosomal region linked to autism.

Researchers have identified nearly 4,000 genetic regions that may be critical for brain function, and harbor mutations involved in disorders such as autism, they reported 25 May in Nature Genetics.

Researchers have linked defects in the dopamine brain circuit to behaviors of a new mouse model of the 16p11.2 deletion. In a study in the 16 May Cell Reports, they suggest that the mutation alters the brain’s regulation of dopamine and may be responsible for behavioral problems, including autism.

The genes in 16p11.2, the autism-linked region on chromosome 16, may directly affect brain size early in development, according to unpublished research presented Thursday at the 2014 International Meeting for Autism Research in Atlanta.

The children of obese fathers may be at a 53 percent higher risk of autism than children whose fathers are a healthy weight, reports a large Norwegian study published 7 April in Pediatrics.

Roughly one-quarter of people with neurofibromatosis type 1 — one of a family of rare disorders that show enhanced signaling in a cancer-related pathway — also have autism, according to a study published in December in Pediatrics.

Deletion and duplication of the 16p11.2 chromosomal region have opposite effects on brain size, but produce similar alterations in the brain’s processing of sound. Researchers reported these and other unpublished findings at the 2013 Society for Neuroscience annual meeting in San Diego, painting a complex picture of the region’s role in autism.

A new imaging technique that can assemble finely detailed pictures of an individual mouse’s brain in less than a day is being used to explore mouse models of autism. Data from the first two models were presented Wednesday at the 2013 Society for Neuroscience annual meeting in San Diego.