Fragile X syndrome
Open accessAbstract
Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (>200) on the promotor region of the fragile X mental retardation 1 gene (FMR1). As a result, the promotor region often becomes methylated which leads to a deficiency or absence of the FMR1 protein (FMRP). Common characteristics of FXS include mild to severe cognitive impairments in males but less severe cognitive impairment in females. Physical features of FXS include an elongated face, prominent ears, and post-pubertal macroorchidism. Severe obesity in full mutation males is often associated with the Prader-Willi phenotype (PWP) which includes hyperphagia, lack of satiation after meals, and hypogonadism or delayed puberty; however, there is no deletion at 15q11-q13 nor uniparental maternal disomy. Herein, we discuss the molecular mechanisms leading to FXS and the Prader-Willi phenotype with an emphasis on mouse FMR1 knockout studies that have shown the reversal of weight increase through mGluR antagonists. Finally, we review the current medications used in treatment of FXS including the atypical antipsychotics that can lead to weight gain and the research regarding the use of targeted treatments in FXS that will hopefully have a significantly beneficial effect on cognition and behavior without weight gain.
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Fragile X syndrome is characterized by specific physical features, as well as cognitive and behavioral phenotypes.
“This rare genetic disorder is characterized by specific physical features, as well as cognitive and behavioral phenotypes (Berry-Kravis et al., 2002, 2011; McLennan et al., 2011).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as McLennan et al., 2011
This creates an FMRP deficiency in the brain, which leads to Fragile X syndrome presentation.
“This creates an FMRP deficiency in the brain, which leads to FXS presentation (McLennan et al., 2011; Tassone et al., 2000a).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as McLennan et al., 2011
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Self-citation
- Authors
- McLennan, Y., Polussa, J., Tassone, F., & Hagerman, R.
- Affiliations
- University of California Davis Medical Center (US)
- Corresponding author
- Hagerman, Randi
- Venue
- Current Genomics
- Publisher
- Bentham Science Publishers Ltd.
- Published
- 2011-05-01
- Volume
- 12
- Issue
- 3
- Pages
- 216-224
- ISSN
- 1389-2029 (ISSN-L)
- PMC
- PMC3137006
- OpenAlex
- W2314964035
- Cited by
- 160
- References
- 81
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 12 · 2023: 8 · 2022: 6 · 2021: 7 · 2020: 8 · 2019: 9 · 2018: 7 · 2017: 15 · 2016: 12 · 2015: 17 · 2014: 26 · 2013: 17 · 2012: 7
- FWCI
- 10.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Current Genomics (publishedVersion)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institute on Aging (AG032119, AG032115, RL1AG032119, DA024854, RL1AG032115, 90DD05969, HD036071, DE019583, HD02274, NIA RL1 AG032119)
- National Institute on Drug Abuse (TL1DA024854, DA024854)
- National Institute of Neurological Disorders and Stroke (RL1NS062412, NS062412)
- 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 › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, FMR1 gene, CGG repeat expansion, FMRP, obesity, hyperphagia, hypogonadism, macroorchidism, intellectual disability, autism spectrum disorder, X-linked disorders, mGluR antagonists, Fmr1 knockout mice, atypical antipsychotics, weight gain, targeted therapy
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