Autism traits in the RASopathies
Open accessAbstract
Background: Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs. Methods: We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling controls and subjects with idiopathic ASDs using the qualitative Social Communication Questionnaire (SCQ) and the quantitative Social Responsiveness Scale (SRS). Results: Each of the four major RASopathies showed evidence for increased qualitative and quantitative autism traits compared with sibling controls. Further, each RASopathy exhibited a distinct distribution of quantitative social impairment. Levels of social responsiveness show some evidence of correlation between sibling pairs, and autism-like impairment showed a male bias similar to idiopathic ASDs. Conclusions: Higher prevalence and severity of autism traits in RASopathies compared to unaffected siblings suggests that dysregulation of Ras/MAPK signalling during development may be implicated in ASD risk. Evidence for sex bias and potential sibling correlation suggests that autism traits in the RASopathies share characteristics with autism traits in the general population and clinical ASD population and can shed light on idiopathic ASDs.
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Mutations in RAS/MAPK signaling genes form Rasopathies, which are frequently associated with ASD features.
“Mutations in a set of genes involved in RAS/MAPK signaling form a set of syndromes known as “Rasopathies”, which are frequently associated with features of ASD (Adviento et al., 2014).”
From Getting to the cores of autism (2019) · cites this paper as Adviento et al., 2014
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“Mutations in a set of genes involved in RAS-MAPK signaling form a set of syndromes known as ‘‘Rasopathies,’’ which are frequently associated with features of ASD (Adviento et al., 2014).”
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- Authors
- Adviento, B., Corbin, I. L., Widjaja, F., Desachy, G., Enrique, N., Rosser, T., Risi, S., Marco, E. J., Hendren, R. L., Bearden, C. E., Rauen, K. A., & Weiss, L. A.
- Affiliations
- University of California, San Francisco (US)
- University of California, Los Angeles (US)
- Children's Hospital Los Angeles (US)
- Corresponding author
- Weiss, Lauren A
- ORCID
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2013-10-07
- Volume
- 51
- Issue
- 1
- Pages
- 10-20
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC4230531
- OpenAlex
- W1968862207
- Cited by
- 174
- References
- 83
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 18 · 2023: 9 · 2022: 13 · 2021: 12 · 2020: 13 · 2019: 14 · 2018: 18 · 2017: 14 · 2016: 18 · 2015: 12 · 2014: 8 · 2013: 1
- FWCI
- 7.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (DP2OD007449)
- National Institute of Mental Health (R34MH089299)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR062165)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
- Keywords
- autistic traits, RASopathies, RAS/MAPK pathway, neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, autism spectrum disorder, social responsiveness, social communication, sex bias, sibling correlation, germline mutations
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Diagnosis, Differential, Ectodermal Dysplasia, Failure to Thrive, Female, Heart Defects, Congenital, Humans, Male, Middle Aged, Mutation, Neuropsychological Tests, Noonan Syndrome, Phenotype, Surveys and Questionnaires, Sex Factors, Signal Transduction, Prevalence, ras Proteins, Facies, Quantitative Trait, Heritable, Mitogen-Activated Protein Kinases, Siblings, Young Adult, Costello Syndrome, Patient Outcome Assessment
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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