Mice with a mutation in SHANK3, a leading autism candidate gene, show moderate social defects, including less-than-normal interest in other mice. The findings, published 27 May in Cell, suggest that mutations in different sites on the gene can lead to different behaviors. This paper was retracted on 17 January 2013. Associate director of research Alan Packer discusses the implications of the retraction here.

A new study provides the first functional link between the schizophrenia risk gene DISC1 and two candidate genes for autism. DISC1 significantly alters expression of NRXN1 and NRXN2 at key phases of development, according to a brief report in the June issue of Molecular Psychiatry.

A complex mathematical technique can improve the sensitivity of experiments that rely on brain imaging, allowing researchers to study how the brain responds to sequences of stimuli, according to a study published in the June issue of NeuroImage.

Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.

Two networks of genes are abnormally expressed in the brains of people with autism, according to a study published today in Nature.

Researchers have devised a way to inactivate genes in zebrafish embryos, creating a collection of hundreds of mutant fish lines in which gene function can be explored. The technique was published online 8 May in Nature Methods.

Individuals with autism have multiple mutations in a pathway that functions in the mitochondria, the energy center of the cell, according to a study published 27 April in the European Journal of Human Genetics. They also have higher-than-average numbers of variants in pathways involved in metabolism, gene expression and the regulation of cell division.

Autism is diagnosed based on the severity and variety of its symptoms. This makes it very difficult to diagnose and easy to confuse with other disorders, such as language delay and intellectual disability, cautions Isabelle Rapin.

MeCP2, the protein that’s missing or mutated in Rett syndrome, is crucial for remodeling neural circuits in response to vision, according to a study published in April in Neuron.

Genetic screening of children with autism is critical to designing more effective interventions and treatment, says a pediatrician.