Autism genetics

@article{Persico2013AutismG,
  title={Autism genetics},
  author={Antonio M Persico and Valerio Napolioni},
  journal={Behavioural Brain Research},
  year={2013},
  volume={251},
  pages={95-112}
}
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic underpinnings. However, genetic contributions to autism are extremely heterogeneous, with many different loci underlying the disease to a different extent in different individuals. Moreover, the phenotypic expression (i.e., "penetrance") of these genetic components is also highly variable, ranging from fully penetrant point mutations to polygenic forms with multiple gene-gene and gene-environment… 
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173 Citations
Highly Influential Citations
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173 Citations

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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder
TLDR
The integrative network analysis showed that the siblings’ shared translocation could explain their similar syndromic phenotype, including overgrowth, macrocephaly, and intellectual disability, and shows the importance of using an integrative approach to explore genotype-phenotype variability.
Channelopathy pathogenesis in autism spectrum disorders
TLDR
Examination of existing evidence for the role of ion channel gene defects in the pathogenesis of autism with a focus on calcium signaling and its downstream effects concludes that channelopathies have profound effects on brain functions.
[Molecular aspects of autism spectrum disorders].
  • M. Lisik
  • Psychology, Medicine
    Psychiatria polska
  • 2014
TLDR
It is estimated that a specific genetic etiology can be determined in up to 20% of individuals with ASD, and for families where a specific etiology has been identified, the risk of recurrence in siblings generally depends on the etiologic diagnosis.
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
TLDR
The aim of this review is to summarize the key findings in ASD from genetic viewpoint that have been identified from the last few decades of genetic and molecular research.
Environmental Factors in the Onset of Autism Spectrum Disorder
TLDR
Evidence is accumulating that environmental toxicants interacting additively or synergistically with genetic liability, can push prenatal neurodevelopmental processes over the threshold for postnatal ASD expression, and research on environmental contributions to ASD and on specific Gene x Environment interaction models ultimately aims at defining targeted preventive strategies.
Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications
TLDR
The objectives of this article are to review the current status of genetic research in ASD, and to provide information regarding the potential candidate genes, mutations, and genetic loci possibly related to pathogenesis in ASD.
Autism--genetics, electrophysiology and clinical syndromes.
TLDR
Generally, the subsequent analyses indicate that the causes of autism include fewer common single-gene mutations and chromosomal abnormalities, as well as multiple interacting genes of weak effect.
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
TLDR
The results suggest that when interpreting the NGS results in the clinical setting, careful observation of VOUS with some pathological evidence might contribute to the discovery of genetic pathogenesis of neurodevelopmental disorders such as ASD and epilepsy.
Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review
TLDR
This review emphasizes the major CNVs reported to date in ASD and reveals that submicroscopic CNVs can have a role in ASD, and de novo CNVs seem to be a more common risk factor in sporadic compared with inherited forms of ASD.
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes
TLDR
Gene Ontology enrichment analysis indicates that most potentially causal or relevant ASD genes detected in this cohort belong to nervous system‐specific categories, especially involved in neurite elongation and synaptic structure/function, which point toward the existence of genomic instability in these families, whose underlying genetic and epigenetic mechanisms deserve further scrutiny.
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