Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.

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.

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

Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.

A neurotransmitter called VIPR2, or vasoactive intestinal peptide receptor, is a candidate gene for schizophrenia and, potentially, autism, according to a study published in February in Nature.

Duplication or deletion of 16p11.2 — a much-studied chromosomal region with a strong association with autism — is present in 0.76 percent of people with the disorder, according to a meta-analysis published February in Genetics in Medicine.

Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes.

Copy number variations, or CNVs — duplications or deletions of DNA segments — can influence the expression of unrelated genes on the same chromosome, according to a study published in November in PLOS Biology.

Two independent groups have created mice that have deletions or duplications in a large section of chromosome 16. Each team has produced an animal with a different set of features, some of which — such as large head size and repetitive behaviors — are reminiscent of people with autism.

Individuals with a deletion in the 16p11.2 chromosomal region — which has been linked to autism in several studies — show features of autism spectrum disorders including language delay, according to a study published in October.