Autistic Aberrations

Two recent papers have been published that both deal with chromosomal aberrations and autism. One paper reports de novo copy number mutations associated with some cases of autism. These are copy number polymorphisms not present in either parent; the mutation arises in the parental germ line, although, I believe it is also possible the mutation happens after fertilization. The other paper presents data using SNPs and copy number variants to map regions of the genome associated with autism risk. I’m not all that interested in the autism component of this research, but the prevalence of structural variants is pretty cool.


  1. #1 John Wilkins
    April 17, 2007

    Any data on Asperger’s? I can’t access those papers.

  2. #2 RPM
    April 17, 2007

    In regards to Asperger’s, the Science paper (the one about de nove mutations) includes the following:

    We detected a 1.1 Mb deletion of 20p13 in a child with the diagnosis of Asperger syndrome. This deletion involves approximately 27 genes including the oxytocin gene OXT, a particular noteworthy candidate in light of studies in humans and rodents that find evidence for the role of oxytocin in regulating social cognition.


    Two of the patients in Table 1 have a formal diagnosis of Asperger syndrome, suggesting that spontaneous chromosomal imbalances are common across the whole spectrum of the disorder.

    There isn’t much of a mention of Asperger in the Nature Genetics paper (the one about mapping variants associated with autism).

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