Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder
- BiologyPloS one
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
- Biology, PsychologyFront. Genet.
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].
- Psychology, BiologyPsychiatria polska
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.
- Biology, PsychologyAdvances in neurobiology
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
- Psychology, BiologyCurrent Developmental Disorders Reports
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
- Psychology, MedicineExperimental neurobiology
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.
- Medicine, PsychologyPrilozi
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
- Psychology, MedicineFrontiers in Pharmacology
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
- Biology, Psychology
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
- Psychology, BiologyAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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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Genetic architecture in autism spectrum disorder.
- Biology, PsychologyCurrent opinion in genetics & development
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
- Biology, PsychologyHuman Genetics
A large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD highlights the applicability of HH mapping in complex disorders such as ASD and offers an alternative approach to the analysis of genome-wide association data.
Functional impact of global rare copy number variation in autism spectrum disorders
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.
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
- Biology, PsychologyMolecular Psychiatry
Test the hypothesis that rare variants in many different genes, including de novo variants, could predispose to these conditions in a fraction of cases, and identified >200 non-synonymous variants, with an excess of rare damaging variants, which suggest the presence of disease-causing mutations.
Autism spectrum disorders: The quest for genetic syndromes
- Medicine, PsychologyAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility
- Biology, PsychologyHuman mutation
The results of whole‐exome sequence in a cohort of 20 ASD patients support an association between ANK3 mutations and ASD susceptibility and imply a shared molecular pathophysiology between ASDs and other neuropsychiatric disorders.
Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans
- BiologyExpert review of molecular diagnostics
The genetic architecture and phenotypic heterogeneity identified so far suggest additional approaches, such as population-based research and study of relevant neurobiological endophenotypes, which might yet uncover common CNV risk loci and rare single nucleotide risk alleles, which are currently difficult to detect.
Individual common variants exert weak effects on the risk for autism spectrum disorders
- BiologyHuman molecular genetics
Stage 2 of the Autism Genome Project genome-wide association study is reported, adding 1301 ASD families and bringing the total to 2705 families analysed, and it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.