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      CHD8 haploinsufficiency results in autistic-like phenotypes in mice

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          De novo gene disruptions in children on the autistic spectrum.

          Ivan Iossifov, Michael Ronemus, Dan Levy … (2012)
          Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We do not see significantly greater numbers of de novo missense mutations in affected versus unaffected children, but gene-disrupting mutations (nonsense, splice site, and frame shifts) are twice as frequent, 59 to 28. Based on this differential and the number of recurrent and total targets of gene disruption found in our and similar studies, we estimate between 350 and 400 autism susceptibility genes. Many of the disrupted genes in these studies are associated with the fragile X protein, FMRP, reinforcing links between autism and synaptic plasticity. We find FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders. Copyright © 2012 Elsevier Inc. All rights reserved.
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            Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

            João Peça, Cátia Feliciano, Jonathan T. Ting … (2011)
            Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of neurobehavioural deficits characterized by widespread abnormalities in social interactions, deficits in communication as well as restricted interests and repetitive behaviours. The neurological basis and circuitry mechanisms underlying these abnormal behaviours are poorly understood. Shank3 is a postsynaptic protein, whose disruption at the genetic level is thought to be responsible for development of 22q13 deletion syndrome (Phelan-McDermid Syndrome) and other non-syndromic ASDs. Here we show that mice with Shank3 gene deletions exhibit self-injurious repetitive grooming and deficits in social interaction. Cellular, electrophysiological and biochemical analyses uncovered defects at striatal synapses and cortico-striatal circuits in Shank3 mutant mice. Our findings demonstrate a critical role for Shank3 in the normal development of neuronal connectivity and establish causality between a disruption in the Shank3 gene and the genesis of autistic like-behaviours in mice.
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              Advances in autism genetics: on the threshold of a new neurobiology.

              Brett Abrahams, Daniel Geschwind (2008)
              Autism is a heterogeneous syndrome defined by impairments in three core domains: social interaction, language and range of interests. Recent work has led to the identification of several autism susceptibility genes and an increased appreciation of the contribution of de novo and inherited copy number variation. Promising strategies are also being applied to identify common genetic risk variants. Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.
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                Author and article information

                Journal
                Title: Nature
                Abbreviated Title: Nature
                Publisher: Springer Nature
                ISSN (Print): 0028-0836
                ISSN (Electronic): 1476-4687
                Publication date Created: September 7 2016
                Publication date (Print): September 7 2016
                Volume: 537
                Issue: 7622
                Pages: 675-679
                Article
                DOI: 10.1038/nature19357
                PubMed ID: 27602517
                SO-VID: 766cd920-b796-4d6d-b0c5-1531e778754a
                Copyright © © 2016
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