Two rare, unlikely and inherited mutations in the same gene may together have contributed to a case of autism, according to a study published 23 March in Molecular Psychiatry. The results suggest that the gene, DIAPH3, is a new candidate for autism risk.

Small duplications or deletions of DNA regions — called micro-copy number variations — may not lead directly to disease, but could raise the risk of autism when combined with other mutations, according to a study published in March in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.

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.

Mutations in a gene that organizes synapses — the junctions between neurons — may increase the risk of autism, according to a study published in February in Autism Research. The study bolsters evidence linking a pathway involved in cell-to-cell communication to autism.

Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.

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.

Rare mutations in TSGA14, a component of the centrosome — which is required for the generation of new neurons — may be associated with autism, according to a study published in January in the American Journal of Medical Genetics.

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.

Researchers have identified a rare genetic variant linked to autism in DLX1, a gene that regulates the growth of neurons, they reported in December in the American Journal of Medical Genetics.