A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.

People with autism are twice as likely as controls to have mutations that disable both copies of a gene, according to preliminary research presented Wednesday at the Autism Consortium Research Symposium in Boston.

Researchers have uncovered a rare, genetic form of autism caused by mutations that speed up the breakdown of certain amino acids. The findings, published 6 September in Science, suggest that nutritional supplements may alleviate symptoms of the disorder in people with these mutations. 

Researchers have launched an effort to yoke together disparate gene sequencing projects in the U.S., Canada and the U.K., aiming to double the number of known autism-related genes in the next three to four years.

By sequencing the protein-coding region of the genome of a single affected family member, researchers were able to diagnose 20 percent of people in 85 consanguineous families with unknown neurodevelopmental disorders, according to research published 13 June in Science Translational Medicine.

By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.

A genetic defect in the synthesis of carnitine, a molecule that is essential for proper mitochondrial function, might slightly increase risk for autism in some children, according to research published 8 May in the Proceedings of the National Academy of Sciences.

Parents searching for a genetic diagnosis for their child with autism now have a new option: a test that analyzes 62 different genes linked to syndromic autism, meaning cases of the disorder caused by mutation of a single gene.

Researchers have developed a tool that can predict whether DNA mutations that change a single base pair are likely to alter RNA splicing, a process that modifies the sequence of mRNA, the genetic message that codes for protein. The results were published 10 February in Bioinformatics.

By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.