The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published 3 October in PLoS Genetics. 

Researchers weigh in on the mounting evidence for a paternal-age effect in autism and what it might reveal about evolutionary mechanisms underlying the disorder.

A new method of genetic analysis allows researchers to identify regions that are identical on both copies of a chromosome, according to a study published 20 September in Molecular Cytogenetics.

A gene’s length may influence its expression, and this has implications for autism, which tends to be linked to particularly long genes, says Mark Zylka. 

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.

Mutations in GABRB3, a brain receptor linked to autism, are prevalent in severe childhood epilepsy, according to a study published 12 September in Nature.

Certain mutations may hijack the normal mechanisms of sperm production, leading to an enrichment of mutant sperm in older fathers, and to the paternal-age effect in autism.

A new statistical model pulls together information about inherited and spontaneous mutations in a single analysis to enhance the search for autism candidate genes. The method, called transmission and de novo association, or TADA, was described 15 August in PLoS Genetics.

Enzymes called topoisomerases are crucial for the expression of extremely long genes, including many that have been linked to autism, according to a study published 5 September in Nature. The researchers also discovered that autism genes are, on average, significantly longer than others.

Spontaneous mutations are elevated in people with autism, but only in those who also have intellectual disability, according to unpublished data presented yesterday at a conference in Cambridge, Massachusetts.