Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

Sarah R. Gilman, et al., Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses, Neuron 70, 2011

In this study, we develop a method for network-based analysis of genetic associations (NETBAG). We use NETBEG to identify a large biological network of genes affected by rare de novo CNVs in autism.

Out results are also consistent with the hypothesis that significantly stronger functional perturbations are required to trigger the autistic phenotype in females compared to males. Overall, the presented analysis of de novo variants supports the hypothesis that perturbed synaptogenesis is at the heart of autism.

There is growing evidence that changes in dendritic spine morphology contribute to a number of neurological disorders. A decrease in the density of dendritic spines in regions of the cerebral cortex has been linked to schizophrenia. On the other hand, an increase in spine size or density has been connected to Fragile X syndrome, a disorder frequently associated with autism.

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