Genetic research in autism spectrum disorders
Open accessAbstract
PURPOSE OF REVIEW: The recent explosion of genetic findings in autism spectrum disorder (ASD) research has improved knowledge of the disorder's underlying biology and etiologic architecture. This review introduces concepts and results from recent genetic studies and discusses the manner in which those findings can influence the trajectory of ASD research. RECENT FINDINGS: Large consortium studies have associated ASDs with many types of genetic risk factors, including common polygenic risk, de novo single nucleotide variants, copy number variants, and rare inherited variants. In aggregate, these results confirm the heterogeneity and complexity of ASDs. The rare variant findings in particular point to genes and pathways that begin to bridge the gap between behavior and biology. SUMMARY: Genetic studies have the potential to identify the biological underpinnings of ASDs and other neuropsychiatric disorders. The data they generate are already being used to examine disease pathways and pathogenesis. The results also speak to ASD heterogeneity and, in the future, may be used to stratify research studies and treatment trials.
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The enrichment in ID/DD genes is compatible with observations of the role of intellectual disability genes in some cases of autism and schizophrenia, though penetrance for schizophrenia may be much less than for intellectual disability and may reside primarily in syndromic cases.
“This enrichment is compatible with observations of the role of intellectual disability genes in some cases of autism38–40 and schizophrenia17, though the penetrance of such mutations for schizophrenia may be much less than their penetrance for intellectual disability, and they may reside primarily in syndromic cases in which schizophrenia is preceded by other developmental disorders17.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [39]
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- Authors
- Robinson, E. B., Neale, B. M., & Hyman, S. E.
- Affiliations
- Broad Institute (US)
- Corresponding author
- Robinson, Elise B.
- Venue
- Current Opinion in Pediatrics
- Published
- 2015-12
- Volume
- 27
- Issue
- 6
- Pages
- 685-691
- ISSN
- 1040-8703 (ISSN-L)
- PMC
- PMC4650984
- OpenAlex
- W2219737137
- Cited by
- 60
- References
- 39
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 4 · 2022: 5 · 2021: 7 · 2020: 5 · 2019: 6 · 2018: 8 · 2017: 13 · 2016: 7 · 2015: 1
- FWCI
- 0.96
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Current Opinion in Pediatrics (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Funders
- National Institutes of Health (5k01mh099286-02, 5u01mh094432-04)
- National Institute of Mental Health (1K01MH099286-02, 5U01MH094432-04, K01 MH099286)
- 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 › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, genetic risk factors, polygenic risk, copy number variation, ASD heterogeneity, pathogenesis, neuropsychiatric disorders, genetic research
- MeSH terms
- Autism Spectrum Disorder, Genetic Testing, Humans, Risk Factors, Genetic Variation, Genome, Human, Sequence Analysis, DNA, Sequence Analysis, RNA, Twin Studies as Topic, Genetic Predisposition to Disease, Genetic Research, Inheritance Patterns, DNA Copy Number Variations
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