Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
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Significance: Autism spectrum disorder (ASD) research is complicated by heterogeneity. There are several types of genetic risk factors for ASDs, and that diversity may be reflected in case presentation. This study presents evidence for systematic variation in the genetic architecture of ASDs in which higher functioning cases, defined through cognitive and behavioral assessments, are more likely to manifest familial influences. This finding suggests that genetic and neurobiological research into ASDs and other neuropsychiatric disorders may be pursued more efficiently through greater phenotypic characterization.
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Excess burden is not limited to low-IQ cases, supporting the idea that de novo variants do not solely impair cognition.
“Thus, excess burden is not limited to low-IQ cases, supporting the idea that de novo variants do not solely impair cognition (Robinson et al., 2014).”
From Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020) · cites this paper as Robinson et al., 2014
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 [38]
There is little evidence that siblings of female probands exhibit a differential risk for the occurrence of categorical ASD.
“There is little evidence, however, that siblings of female probands exhibit a differential risk for the occurrence of categorical ASD [8, 21, 23–25].”
From Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study (2015) · cites this paper as [25]
In the Simons Simplex Collection, individuals with ASD but not intellectual disability have a higher rate of family history of psychiatric disease and thus a greater familial burden.
“whereas individuals with ASD but not ID have a higher rate of family history of psychiatric disease and thus a greater familial burden (98).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [98]
In the Simons Simplex Collection, individuals with ASD and IQ below 100 have an excess of de novo loss-of-function mutations compared with higher functioning individuals.
“In the SSC, individuals with ASD and IQ < 100 have an excess of de novo loss-of-function mutations in comparison to their higher functioning counterparts (97,98)”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [98]
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“Thus, the signal for association, mediated by 9 mutation, is not solely limited to the low IQ subjects, supporting the idea that de novo variants do 10 not solely impair cognition (80).”
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- Authors
- Robinson, E. B., Samocha, K. E., Kosmicki, J. A., McGrath, L., Neale, B. M., Perlis, R. H., & Daly, M. J.
- Affiliations
- Broad Institute (US)
- Harvard University (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2014-10-06
- Volume
- 111
- Issue
- 42
- Pages
- 15161-15165
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC4210299
- OpenAlex
- W1998025962
- Semantic Scholar
- a9f308e7ed25dc89bb70c25d3b52ac935c460797
- Cited by
- 142
- References
- 43
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 10 · 2023: 5 · 2022: 8 · 2021: 16 · 2020: 19 · 2019: 16 · 2018: 12 · 2017: 19 · 2016: 14 · 2015: 16
- FWCI
- 9.11
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust (102215)
- National Institutes of Health (5k01mh099286-02)
- National Institute of Mental Health (K01 MH099286, 1K01MH099286-01A1)
- National Human Genome Research Institute (T32HG002295)
- 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, de novo mutations, loss-of-function mutations, familial risk, psychiatric comorbidity, intelligence quotient, cognitive impairment, language impairment, behavioral impairment, sex differences, genetic architecture, ASD etiology
- MeSH terms
- Behavior, Bipolar Disorder, Child Development Disorders, Pervasive, Cognition Disorders, Female, Humans, Intelligence Tests, Male, Mutation, Phenotype, Regression Analysis, Risk Factors, Schizophrenia, Seizures, Genetic Predisposition to Disease
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