A new paper accomplishes a rare feat, linking human genetics with physiology, behavior and a therapeutic in a compelling mouse model of autism, says Alan Packer.

Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published 7 January in the Proceedings of the National Academy of Sciences.

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. 

An effort to rank autism genes on the strength of the evidence implicating them in the disorder will provide researchers with a focused list of genes to study, says Alan Packer.
 
 

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.

One of the largest genome-wide screens of methyl tags in postmortem brains has found that people with autism have three unique regions of methylation — chemical modifications that affect gene expression. The results were reported 3 September in Molecular Psychiatry.

The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.

Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.

A new statistical method for linking genes to a disorder analyzes both rare and common variants of a gene at the same time, according to a study published 14 May in the American Journal of Human Genetics. This makes it possible to confirm associations that other techniques might overlook.

A single gene mutation leads to Rett syndrome, but other variants may modify the severity of an individual’s symptoms, according to a study published 28 February in PLoS One.