Epigenetics of autism spectrum disorders

Schanen, N. Carolyn

doi:10.1093/hmg/ddl213

Cited by 341Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Syndromes and Imprinting

Epigenetics of autism spectrum disorders

Schanen, N. Carolyn·2006·Human Molecular Genetics

DOI 10.1093/hmg/ddl213

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Abstract

The autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived duplications of the imprinted domain on chromosome 15q11-13. Thus, parent of origin effects on sharing and linkage to imprinted regions on chromosomes 15q and 7q suggest that these regions warrant specific examination from an epigenetic perspective, particularly because epigenetic modifications do not change the primary genomic sequence, allowing risk epialleles to evade detection using standard screening strategies. This review examines the potential role of epigenetic factors in the etiology of ASD.

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“Linkage data from genome screens and animal models suggest also a possible role of the oxytocin receptor gene at 3p25–p26 (49).”
From Geneâ€‰Ã—â€‰Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [49]

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Authors: Schanen, N. C.
Affiliations: University of Delaware (US)
Corresponding author: Schanen, N. Carolyn
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2006-10-15
Volume: 15
Issue: suppl_2
Pages: R138-R150
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddl213
OpenAlex: W2135156268
Cited by: 341
References: 179
Citations by year: 2026: 4 · 2025: 6 · 2024: 4 · 2023: 13 · 2022: 7 · 2021: 5 · 2020: 8 · 2019: 12 · 2018: 10 · 2017: 14 · 2016: 21 · 2015: 23 · 2014: 34 · 2013: 38 · 2012: 29
FWCI: 1.32
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Center for Research Resources (P20RR020173)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD037874, U19HD035470)
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 › Genetics › Genetic Syndromes and Imprinting
Keywords: autism spectrum disorder, epigenetics, fragile X syndrome, Rett syndrome, genomic imprinting, chromosome 15q11-13, chromosome 7q, parent-of-origin effects, epialleles, epigenetic mutations, ASD pathogenesis
MeSH terms: Autistic Disorder, Child, Child Development Disorders, Pervasive, Chromosome Aberrations, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 7, Female, Humans, Male, Syndrome, Genomic Imprinting, Chromosomes, Human, X, Epigenesis, Genetic

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