Inherited Genes Don't Cause Autism

The Autism Genome Project Consortium (AGPC)  has suggested that they have found a genetic link to autism.  The truth is quite a bit different.

The AGPC reported evidence that a particular type of rare, inherited mutation (called a CNV, or copy number variant) was more frequent in the DNA of autistic cases than controls.  But if you read the study carefully, you quickly learn that the vast majority of the results are actually negative -- in fact, there was essentially no difference at all in the mutation rate between autistic subjects and controls.

Along just about every dimensions, the AGPC team found no difference in CNVs between cases and controls -- no excess of CNVs in terms of the number of CNVs per sample, the percentage of samples with CNVs, the total amount of affected DNA, or the average size of CNVs.

According to Age of Autism:

“Of course, the headlines never read, ‘after years of effort, a multi-million dollar AGPC study connects gene mutations to less than 2 percent of autism cases.’ But the raw truth in the fine print reveals that this weak finding has no right to be called a ‘breakthrough’: most of the genetic defects involved in these ASD or ID implicated syndromes are vanishingly rare; none of them ‘cause’ autism, they merely create susceptibility; and the suggested biological mechanisms are as diverse as the many syndromes lumped together as ‘ASD-implicated’ and ‘ID.’”

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