Cited by 235Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

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Autism Spectrum Disorders and Epigenetics

Grafodatskaya, Daria, Chung, Brian, Szatmari, Peter, Weksberg, Rosanna·2010·Journal of the American Academy of Child & Adolescent Psychiatry

DOI 10.1016/j.jaac.2010.05.005

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Abstract

Objective Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD.Method In this review, we summarize current knowledge about epigenetic modifications to genes and genomic regions possibly involved in the etiology of ASD.Results Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness), all demonstrate dysregulation of epigenetic marks or epigenetic mechanisms. We report also on genes or genomic regions exhibiting abnormal epigenetic regulation in association with either syndromic (15q11-13 maternal duplication) or nonsyndromic forms of ASD. Finally, we discuss the state of current knowledge regarding the etiologic role of environmental factors linked to both the development of ASD and epigenetic dysregulation.Conclusion Data reviewed in this article highlight a variety of situations in which epigenetic dysregulation is associated with the development of ASD, thereby supporting a role for epigenetics in the multifactorial etiologies of ASD.

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Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population
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Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice
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Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
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A linkage disequilibrium map of the 1‐Mb 15q12 GABAA receptor subunit cluster and association to autism
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Social behavior profile in young males with fragile X syndrome: Characteristics and specificity
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Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
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Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome
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Genetic disorders associated with macrocephaly
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Cerebral Palsy, Autism Spectrum Disorders, and Developmental Delay in Children Born After Assisted Conception: A Systematic Review and Meta-analysis
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MECP2 structural and 3′‐UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism
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Autism in Angelman Syndrome
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Characterisation of interstitial duplications and triplications of chromosome 15q11–q13
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Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
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Recent advances in MeCP2 structure and functionThis paper is one of a selection of papers published in this Special Issue, entitled 29th Annual International Asilomar Chromatin and Chromosomes Conference, and has undergone the Journal’s usual peer review process.
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Analysis of reelin as a candidate gene for autism
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One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders
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Association of Reelin gene polymorphisms with autism
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Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection
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Growth Regulation, Imprinted Genes, and Chromosome 11p15.5
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Self-citation
Prenatal exposure to valproic acid leads to reduced expression of synaptic adhesion molecule neuroligin 3 in mice
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Folic acid fortification: a double-edged sword
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Valproic acid and chromatin remodeling in schizophrenia and bipolar disorder: Preliminary results from a clinical population
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Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
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Cerebral Cortical Gray Matter Overgrowth and Functional Variation of the Serotonin Transporter Gene in Autism
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The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits
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Autistic‐like behavior in CHARGE syndrome
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Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
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Fragile X Syndrome: Diagnosis, Treatment and Research
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Pervasive developmental disorders in Prader–Willi syndrome: The Leuven experience in 59 subjects and controls
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Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay
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Up‐regulation of the neuronal serotoninergic phenotype in vitro: BDNF and cAMP share Trk B‐dependent mechanisms
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Serotonin in autism and pediatric epilepsies
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Aberrations in folate metabolic pathway and altered susceptibility to autism
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Autistic Features in Young Children with Significant Cognitive Impairment: Autism or Mental Retardation?
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Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
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Genetic and epigenetic defects in mental retardation
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Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
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Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism
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Autism in association with Turner syndrome: Genetic implications for male vulnerability to pervasive developmental disorders
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“In a series of TS patients, 5 of 150 3%) were diagnosed with autism by ICD-10 criteia.(93) This is five times higher than the 0.”
Background
Genomic imprinting and reproduction
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Matched follow-up study of 5 8-year-old ICSI singletons: child behaviour, parenting stress and child (health-related) quality of life
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Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes
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Features of Autism in Rett Syndrome and Severe Mental Retardation
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Novel variants identified in methyl-CpG-binding domain genes in autistic individuals
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Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin
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Preliminary evidence for involvement of the folate gene polymorphism 19bp deletion-DHFR in occurrence of autism
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Dense linkage disequilibrium mapping in the 15q11–q13 maternal expression domain yields evidence for association in autism
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The association analysis of RELN and GRM8 genes with autistic spectrum disorder in chinese han population
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Beckwith Weidemann syndrome: A behavioral phenotype–genotype study
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Chapter 8 Genomic Imprinting and Imprinting Defects in Humans
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Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
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Rett Syndrome: From the Gene to the Disease
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Analysis of four DLX homeobox genes in autistic probands
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Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian epidemiological data
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Methyl‐CpG‐binding protein 2 polymorphisms and vulnerability to autism
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MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients
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Association between idiopathic infantile macrocephaly and autism spectrum disorders
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Do children born after assisted conception have less risk of developing infantile autism?
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Autism spectrum disorders and underlying brain pathology in CHARGE association
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Valproate administration to mice increases histone acetylation and 5-lipoxygenase content in the hippocampus
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The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype–phenotype correlations
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Oxytocin in health and disease
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A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study
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Polymorphic GGC repeat differentially regulates human reelin gene expression levels
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Autistic disorder in Sotos syndrome: A case report
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Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
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The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders
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Expression analysis and mutation detection of DLX5 and DLX6 in autism
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Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations.
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Imprinting in Human Disease with Special Reference to Transient Neonatal Diabetes and Beckwith-Wiedemann Syndrome
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Evaluation of linkage of markers on chromosome 6p with schizophrenia in Taiwanese families
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Association Study between BDNF Gene Polymorphisms and Autism by Three-Dimensional Gel-Based Microarray
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Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
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Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region
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See all 235

Authors: Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R.
Affiliations: Hospital for Sick Children (CA)
Corresponding author: Weksberg, Rosanna
ORCID: Grafodatskaya, Daria
Chung, Brian
Weksberg, Rosanna
Venue: Journal of the American Academy of Child & Adolescent Psychiatry
Publisher: Elsevier BV
Published: 2010-08
Volume: 49
Issue: 8
Pages: 794-809
ISSN: 0890-8567 (ISSN-L)
DOI: 10.1016/j.jaac.2010.05.005
OpenAlex: W1986743339
Cited by: 235
References: 183
Citations by year: 2026: 6 · 2025: 9 · 2024: 11 · 2023: 10 · 2022: 9 · 2021: 14 · 2020: 11 · 2019: 9 · 2018: 8 · 2017: 16 · 2016: 16 · 2015: 17 · 2014: 18 · 2013: 27 · 2012: 22
FWCI: 1.84
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion)
PubMed (publishedVersion)
The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
Funders: Canadian Institutes of Health Research
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords: autism spectrum disorder, epigenetics, epigenetic dysregulation, ASD etiology, brain development, Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, CHARGE syndrome, environmental factors, gene expression regulation
MeSH terms: Adolescent, Child, Child Development Disorders, Pervasive, Chromosomes, Human, Pair 15, Fragile X Syndrome, Humans, Prader-Willi Syndrome, Risk Factors, Social Environment, Turner Syndrome, Rett Syndrome, Comorbidity, Angelman Syndrome, Genetic Predisposition to Disease, Epigenesis, Genetic, Genetic Association Studies, Megalencephaly, CHARGE Syndrome

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