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Multiple rare variants in the etiology of autism spectrum disorders
Open accessAbstract
Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, with the demonstration that a significant proportion of ASDs are the result of rare, etiological genetic variants, it becomes possible to make use of genetic testing to supplement behavioral analyses for an earlier diagnosis. As it appears that earlier interventions in ASDs will produce better outcomes, the development of genetic testing to augment behaviorally based evaluations in ASDs holds promise for improved treatment. Furthermore, these rare variants involve synaptic and neuronal genes that implicate specific pathways, cells, and subcellular compartments in ASDs, which in turn will suggest novel therapeutic approaches in ASDs. Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs. In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders.
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SHANK3 mutations contribute only a small degree to the population attributable risk of ASD.
“and the degree to which SHANK3 mutations contribute to the population attributable risk of ASD is small (Betancur, 2011; Buxbaum, 2009; State, 2010b).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Buxbaum, 2009
Genetic mutations identified in small numbers of people with autism have been generated in mice.
“To incorporate construct validity for the various genetic mutations identified in small numbers of people with autism (12–21), these mutations have been generated in mice (22, 23).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [16]
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Metadata
- Authors
- Buxbaum, J. D.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Buxbaum, Joseph D.
- ORCID
- Buxbaum, Joseph D.
- Venue
- Dialogues in Clinical Neuroscience
- Publisher
- Informa UK Limited
- Published
- 2009-03-31
- Volume
- 11
- Issue
- 1
- Pages
- 35-43
- ISSN
- 1294-8322 (ISSN-L)
- 1958-5969
- PMC
- PMC3181906
- OpenAlex
- W1553482582
- Cited by
- 158
- References
- 73
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 8 · 2023: 13 · 2022: 9 · 2021: 9 · 2020: 4 · 2019: 3 · 2018: 12 · 2017: 5 · 2016: 15 · 2015: 9 · 2014: 7 · 2013: 11 · 2012: 9
- FWCI
- 7.26
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- Locations
- Dialogues in Clinical Neuroscience (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (MH-066673, U54MH066673)
- 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 › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- autism spectrum disorder, rare variants, genetic etiology, genetic testing, early diagnosis, synaptic genes, neuronal genes, adhesion molecules, NRXN1, neuroligin-3, neuroligin 4, SHANK3, glutamatergic synapses, therapeutic target
- MeSH terms
- Autistic Disorder, Brain Chemistry, DNA Mutational Analysis, Genetic Testing, Humans, Mutation, Genetic Variation, Genetic Predisposition to Disease, Inheritance Patterns
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