ReviewGenetics in medicine : official journal of the American College of Medical Genetics
FMR1 and the fragile X syndrome: human genome epidemiology review.
Review in Genetics in medicine : official journal of the American College of Medical Genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 304 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Safety and Tolerability of CTH120, First-in-human Phase I Study Encompassing Three Parts: Single and Multiple Ascending Doses and Potential Food Interaction
Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects
Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome
Who cites it
304 citing papers in PubMed, 2 syntheses or guidelines pooled it, 702 citations in OpenAlex.
- L-acetylcarnitine for treating fragile X syndrome.The Cochrane database of systematic reviews · 2015Pooled it
- ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.Genome medicine · 2026Trial
- Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome.Journal of neurodevelopmental disorders · 2022Trial
- Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome.Journal of neurodevelopmental disorders · 2020Trial
- A phase 1/2, open-label assessment of the safety, tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric fragile X syndrome.Journal of neurodevelopmental disorders · 2019Trial
- Neonatal expression of human FMRP isoform corrects cortical deficits and improves behavior in a mouse model of fragile X syndrome.Molecular therapy. Nucleic acids · 2026Article
- Across species identification of genes bridging neurological and reproductive functions in mammals.iScience · 2026Article
- Hippocampal Astrocytes Impact Postnatal Development of Inhibitory Connections, Parvalbumin Levels, Social, and Spatial Navigation Behaviors in a Mouse Model of Fragile X Syndrome.Journal of neurochemistry · 2026Article
- Beyond Surface Performance: Analyzing Grammatical Production and Judgment Abilities in Boys With Fragile X Syndrome.American journal of speech-language pathology · 2026Article
- Unraveling the Individualized Shared and Distinct Dynamic Functional Connectivity in Idiopathic Autism Spectrum Disorder and Fragile X Syndrome.CNS neuroscience & therapeutics · 2026Article
- Cerebral Cortex Morphometry and Relaxometry in Male Children With Fragile X Syndrome and Autism.Brain and behavior · 2026Article
- Planning for the Transition to Adulthood: Parent Perspectives on the Planning Process and Experiences of Young Adults with Fragile X Syndrome.Advances in neurodevelopmental disorders · 2026Article
- Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.Cerebellum (London, England) · 2026Article
- Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome.Neurobiology of disease · 2026Article
- Expressive Language Sample Concordance With ADOS-2 Scores: Autism, Down Syndrome, Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2026Article
- Intergenerational associations in inhibitory control inFrontiers in psychiatry · 2026Article
- Parental report-based assessment of sleep problems and mental health in an unreferred cohort of children with a fragile X premutation.Frontiers in molecular neuroscience · 2026Article
- Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations.Human molecular genetics · 2025Article
- Atypical Inter-Brain Synchrony and Social Communication Deficits in Girls with Fragile X Syndrome: Evidence from Functional Near-infrared Spectroscopy Hyperscanning.Research square · 2025Article
244 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5' untranslated region of FMR1 located at Xq27.3. The fragile X CGG repeat has four forms: common (6-40 repeats), intermediate (41-60 repeats), premutation (61-200 repeats), and full mutation (>200-230 repeats). Population-based studies suggest that the prevalence of the full mutation, the disorder-causing form of the repeat, ranges from 1/3,717 to 1/8,918 Caucasian males in the general population. The full mutation is also found in other racial/ethnic populations; however, few population-based studies exist for these populations. No population-based studies exist for the full mutation in a general female population. In contrast, several large, population-based studies exist for the premutation or carrier form of the disorder, with prevalence estimates ranging from 1/246 to 1/468 Caucasian females in the general population. For Caucasian males, the prevalence of the premutation is approximately 1/1,000. Like the full mutation, little information exists for the premutation in other populations. Although no effective cure or treatment exists for the fragile X syndrome, all persons affected with the syndrome are eligible for early intervention services. The relatively high prevalence of the premutation and full mutation genotypes coupled with technological advances in genetic testing make the fragile X syndrome amenable to screening. The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.