Gene Mutations may be a Risk Factor for Autism

Autism risk in some children is linked to gene mutations that occur at conception

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) New research shows that single letter mutations, known as point mutations, in many different genes are linked with a risk of autism. These genes are not found in the parents DNA, but appear in the DNA of children with autism.

Researchers looked for single letter changes in the DNA of 175 children with autism and their parents.

They found many different gene mutations that were present in children with autism, but less than half of the children studied had a mutation that might be the cause of their autism.

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This study found many different genes associated with autism that were not found in the parents DNA. These mutations are thought to occur during conception or very early development.

Less than half of the children studied had mutations that would cause interruptions in function. The paper's authors, led by Benjamin M. Neale, PhD, note that there is reason to think that looking at these mutations can be helpful for understanding autism but that these types of mutations are not likely to be the cause of autism.

The new genes mutations detected in this study contribute to a list of genes that may be associated with risk of autism. Ongoing research by the AASC is looking into how the point mutations in combination with other genetic markers may be used to understand the biology of autism.

Researchers in the ARRA Autism Sequencing Collaborative (AASC) published these new findings in Nature.  The AASC is made up of researchers from the Broad Institute of Massachusetts General Hospital, Baylor College of Medicine, Mount Sinai School of Medicine, Vanderbilt University, University of Pennsylvania, Carnegie Mellon University, and the University of Pittsburgh. 

Reviewed by: 
Review Date: 
April 4, 2012
Last Updated:
April 5, 2012