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Human genetics

Autism — clues from brains and protein domains

Nature Reviews Genetics volume 15, page 287 (2014)Cite this article

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DUF1220 copy number is linearly associated with increasing severity of the three main symptoms of ASDs

Early brain overgrowth is a common feature of autism, which affects several cortical and subcortical regions, including the prefrontal and temporal cortices. Stoner et al. studied post-mortem cortex tissue from 22 children who died between the ages of 2 and 15, half of whom had autism. They used RNA in situ hybridization on these samples to measure the expression levels of 25 genes (including genes that are differentially expressed among the six layers of the cortex, genes previously associated with autism and control genes) that usually have robust and specific expression patterns. The cortical layers are built up during pregnancy; however, Stoner and colleagues report that the genetic markers that usually associate with the different cortical layers were disrupted in patchy regions across these layers in 10 of the 11 samples from children with autism, which suggests that the pathogenesis of autism is already occurring in utero. The frontal regions (which are associated with communication and social comprehension) and the temporal region of the cortex (which is associated with language) were the most affected by these focal patches, and the researchers suggest that this reflects the symptoms seen in these individuals.

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References

  1. Stoner, R. et al. Patches of disorganization in the neocortex of children with autism. N. Engl. J. Med. 370, 1209–1219 (2014)

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  2. Davis, J. M. et al. DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism. PLoS Genet. 10, e1004241 (2014)

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  1. Bryony Jones
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Jones, B. Autism — clues from brains and protein domains. Nat Rev Genet 15, 287 (2014). https://doi.org/10.1038/nrg3715

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