A point mutation in the autism-linked protein neuroligin-3 (NLGN3), seen in individuals with autism, causes the protein to misfold and localize to the wrong site in the cell, according to a study published in September in the Journal of Biological Chemistry.
A newly characterized gene on the X chromosome may be disrupted in up to one percent of people with autism, researchers reported Wednesday in Science Translational Medicine.
One of the largest genome-wide association studies for autism spectrum disorders, reported last week in Human Molecular Genetics, allows only one definitive conclusion: it isn’t large enough.
People with autism harbor more copy number variants (CNVs) — deletions or duplications of large chunks of DNA — compared with controls, but only in the protein-coding regions of the genome, researchers reported Wednesday in Nature. The study also pinpointed more than 100 new risk genes for autism.
Variations in two genes needed to form connections between brain cells may be associated with autism spectrum disorder, according to a study published 25 March in Molecular Autism. Some variants in the genes seem to increase susceptibility to autism, whereas others protect children from developing the disorder.
Researchers are tinkering with mouse models to investigate the function of a protein that helps wire neurons together and that has repeatedly been linked to autism. Three such reports of the protein, neuroligin-1, have appeared this year.
Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.
Scientists have been unable to replicate work showing an association between oxytocin receptor genes and autism.
Attention deficit hyperactivity disorder (ADHD) and autism may have more in common than childhood onset and a few similar symptoms. New research suggests the conditions share genetic roots.
With an openness to collaboration and a healthy dose of daring, Evan Eichler has turned his offbeat interest in repeat DNA sequences into a new understanding of how genomes evolve, expediting the search for genes disrupted in autism.