FMR1 premutation and full mutation molecular mechanisms related to autism
Open accessAbstract
Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5′ un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein that regulates the translation of a number of other genes that are important for synaptic development and plasticity. Furthermore, many of these genes, when mutated, have been linked to autism in the general population, which may explain the high comorbidity that exists between FXS and autism spectrum disorders (ASD). Additionally, premutation repeat expansions (55 to 200 CGG repeats) may also give rise to ASD through a different molecular mechanism that involves a direct toxic effect of FMR1 mRNA. It is believed that RNA toxicity underlies much of the premutation-related involvement, including developmental concerns like autism, as well as neurodegenerative issues with aging such as the fragile X-associated tremor ataxia syndrome (FXTAS). RNA toxicity can also lead to mitochondrial dysfunction, which is common in older premutation carriers both with and without FXTAS. Many of the problems with cellular dysregulation in both premutation and full mutation neurons also parallel the cellular abnormalities that have been documented in idiopathic autism. Research regarding dysregulation of neurotransmitter systems caused by the lack of FMRP in FXS, including metabotropic glutamate receptor 1/5 (mGluR1/5) pathway and GABA pathways, has led to new targeted treatments for FXS. Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism.
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Only about one-third of women with a full mutation have intellectual disability; most have normal IQ, although learning and emotional problems are common.
“Due to compensation by the unaffected X chromosome, only one-third of female carriers with a full mutation (FM) have ID; the majority have normal IQ, although learning difficulties and emotional problems are common (7).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [7]
The fragile X mutation is the most common single genetic cause of autism, occurring in 1% to 6% of boys with autism spectrum disorder.
“The fragile X mutation is the most common single genetic cause of autism, occurring in 1% to 6% of boys with ASD (7).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [7]
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Long‐term potentiation in the hippocampus of fragile X knockout mice
Godfraind, J., Reyniers, E., Boulle, K. D., D’Hooge, R., Deyn, P. P. D., Bakker, C. E., Oostra, B. A., Kooy, R. F., & Willems, P. J. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960809)64:2 · Cited by 16 · see citing works
Lathe, R. (2009) · Autism · doi:10.1177/13623613090130020402 · Cited by 15 · see citing works
Stevens, L. A., Tartaglia, N. R., Hagerman, R. J., et al. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181d5aa56 · Cited by 7 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 3
- Brunberg J, Greco C, Hagerman RJ, Schwartz P, Bakhtiar B, Johl J, Hagerman PJ, Tassone F, editors. Fragile X-associated tremor/ataxia syndrome (FXTAS): autopsy brain MR imaging alterations correlated with histopathology. American Society of Neuroradiology 41st annual meeting and symposium; 2003; Washington, DC, April 26–May 2.
- Kooy F, Heulens I, D’Hulst C, Van der Aa N, Bagni C, Hassan B, De Deyn P, editors. The GABAA receptor as a potential target for therapy of the fragile X syndrome [abstract]. NFXF 12th international FX conference; 2010 July 21–25; Detroit, MI.
- Sellier C, Hagerman P, Willemsen R, Charlet-Berguerand N, editors. DROSHA/DGCR8 sequestration by expanded CGG repeats leads to global micro-RNA processing alteration in FXTAS patients [abstract]. 12th international fragile X conference; 2010 July 21–25; Detroit, MI.
Cited by
Sorted by citations
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
Self-citationGermline Chd8 haploinsufficiency alters brain development in mouse
Gompers, A. L., Su-Feher, L., Ellegood, J., Copping, N. A., Riyadh, M. A., Stradleigh, T. W., Pride, M. C., Schaffler, M. D., Wade, A. A., Catta-Preta, R., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4592 · Cited by 266 · see citing works
Fetit, R., Hillary, R. F., Price, D. J., & Lawrie, S. M. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.07.014 · Cited by 148 · see citing works
The BTBR T+tf/J mouse model for autism spectrum disorders–in search of biomarkers
Meyza, K. Z., Defensor, E. B., Jensen, A. L., Corley, M. J., Pearson, B. L., Pobbe, R. L. H., Bolivar, V. J., Blanchard, D. C., & Blanchard, R. J. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.07.021 · Cited by 147 · see citing works
Stamou, M., Streifel, K. M., Goines, P. E., & Lein, P. J. (2013) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2012.12.001 · Cited by 128 · see citing works
Hunter, J. E., Jenkins, C. L., Grim, V., Leung, S., Charen, K. H., Hamilton, D. R., Allen, E. G., & Sherman, S. L. (2019) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2019.03.008 · Cited by 12 · see citing works
Lau, J. C. Y., Guilfoyle, J., Crawford, S., Johnson, G., Landau, E., Xing, J., Kumareswaran, M., Ethridge, S., Butler, M., Goldman, L., et al. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26062481 · Cited by 1 · see citing works
- Authors
- Hagerman, R., Au, J., & Hagerman, P.
- Affiliations
- University of California Davis Medical Center (US)
- University of California, Davis (US)
- Corresponding author
- Hagerman, Randi
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2011-05-27
- Volume
- 3
- Issue
- 3
- Pages
- 211-224
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC3261276
- OpenAlex
- W2150021890
- Cited by
- 85
- References
- 174
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 5 · 2022: 2 · 2021: 8 · 2020: 3 · 2019: 2 · 2018: 11 · 2017: 6 · 2016: 4 · 2015: 4 · 2014: 7 · 2013: 8 · 2012: 12
- FWCI
- 5.79
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institute on Aging (RL1AG032119, RL1AG032115)
- National Institute on Drug Abuse (TL1DA024854)
- National Institute of Dental and Craniofacial Research (UL1DE019583)
- National Center for Research Resources (RR-024146, HD02274, AG032115, AG032119, HD036071, 90DD05969, UL1RR024146, DE019583, DA024854)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD002274, R01HD036071)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- fragile X premutation, FMR1 full mutation, fragile X syndrome, autism spectrum disorder, FMRP, CGG repeat expansion, RNA toxicity, fragile X-associated tremor/ataxia syndrome, mitochondrial dysfunction, GABAergic neurotransmission, synaptic development
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.
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