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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
TLDR
It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders.
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These
Functional impact of global rare copy number variation in autism spectrum disorders
TLDR
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
TLDR
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Biochemical and molecular investigations in respiratory chain deficiencies.
A synaptic trek to autism
  • T. Bourgeron
  • Biology, Psychology
    Current Opinion in Neurobiology
  • 1 April 2009
From the genetic architecture to synaptic plasticity in autism spectrum disorder
  • T. Bourgeron
  • Biology
    Nature Reviews Neuroscience
  • 1 September 2015
TLDR
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that are key regulators of synaptic plasticity, and when deleterious mutations occur, inefficient genetic buffering and impaired synaptic homeostasis may increase an individual's risk for ASD.
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
A genome-wide scan for common alleles affecting risk for autism
TLDR
In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
TLDR
Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
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