Mutations in a single gene in 15q11.13 — a chromosomal region linked to multiple neurological disorders — may increase the risk of autism, according a study published in November in Nature Genetics.

Individuals with autism may carry genetic variants in a pathway important for brain development, according to a study published in September in Translational Psychiatry.

Now that genetic studies have implicated several hundred genes in autism, researchers are turning their attention to where and when in the healthy young brain these genes are expressed. The first two studies to tackle these questions appear today in Cell.

Researchers have created neurons from the skin cells of children with autism, according to an unpublished study presented Monday at the 2013 Society for Neuroscience annual meeting in San Diego. These neurons show several distinct features, including elevated markers of inhibitory signaling.

Mutations in a gene that plays a role in producing cholesterol in the body increase the risk for autism, suggesting therapies for some people with the disorder, according to research presented in a poster Tuesday at the Autism Consortium’s 2013 Research Symposium.

An effort to rank autism genes on the strength of the evidence implicating them in the disorder will provide researchers with a focused list of genes to study, says Alan Packer.
 
 

Researchers have found the first direct evidence that a hopscotching gene destabilizes the 15q13.3 chromosomal region, and may be to blame for the region’s role in autism and other brain disorders. They presented the unpublished results Wednesday at the American Society of Human Genetics Meeting in Boston, Massachusetts.

Two new studies have found more small deletions and duplications of DNA in individuals with autism than in unaffected controls. These variants may also affect the severity of the disorder.

Thanks to a suite of new tools based on synthetic biology, it’s now possible to quickly and cheaply insert autism-linked mutations into living cells in the lab.

Genes near the chromosomal region implicated in Williams syndrome are involved in epilepsy and autism-like behaviors, according to a study published 12 June in the European Journal of Human Genetics.