Over 100 Genes Linked to Autism Spectrum Disorders

Researchers have identified 107 genes that caused loss-of-function mutations in over 5% of participants with autism.

Researchers have identified 107 autosomal genes that may be linked to the development of autism spectrum disorders (ASD), according to a study published in Nature.

The 107 newly-identified genes caused de novo loss-of-function mutations in over 5% of the study’s subjects with autism spectrum disorders, according to study researcher Joseph D. Buxbaum, MSc, PhD, of the Icahn School of Medicine at Mount Sinai in New York, and colleagues.

Previous research had only linked less than a dozen genes to ASD. To expand on previous findings, the researchers analyzed over 14,000 DNA samples, more than 3,800 of which were from children with autism. The rest of the samples came from parents of the children with autism and ancestry-matched controls.

The researchers looked for either inherited or de novo genetic lesions by sequencing the exome regions of DNA. Many of the genes they found to be associated with ASD coded for proteins that are involved in three pathways important for typical development. The pathways involve the structure of synapses, the remodeling of chromatin, and transcriptional regulation. These pathways include voltage-gated ion channels that regulate the propagation of action potentials, pacemaking, and excitability-transcription coupling.

These findings provide a more comprehensive understanding of some of the underlying genetic and cellular changes that may be involved in ASD. The researchers hope that this new knowledge can eventually lead to potential novel therapies.

“The steps we added to our analysis over past studies provide the most complete theoretical picture to date of how many genetic changes pile up to affect the brains of children with autism,” Dr. Buxbaum told the National Institutes of Health. “While we have very strong findings in these genetic analyses, newfound genetic discoveries must next be moved into molecular, cell, and animal studies to realize future benefits for families.”


  1. De Rubeis S et al. Nature. 2014; doi:10.1038/nature13772.
  2. Torgan C. “Gene disruptions associated with autism risk.” NIH Research Matters. Available here: http://www.nih.gov/researchmatters/november2014/11242014autism.htm