ArticleAmerican journal of human genetics2009
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
Article in American journal of human genetics, 2009. 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 203 papers, 1 of them a synthesis that pooled it.
What it found
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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
203 citing papers in PubMed, 1 synthesis or guideline pooled it, 434 citations in OpenAlex.
- 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
- Parent-Reported Outcome Measures for Individuals with Fragile X Syndrome: Clinically Meaningful Change Thresholds.Journal of autism and developmental disorders · 2026Trial
- Effects of AFQ056 on language learning in fragile X syndrome.The Journal of clinical investigation · 2023Trial
- A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).Journal of neurodevelopmental disorders · 2022Trial
- Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.Scientific reports · 2018Trial
- 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
- Caregiver-perceived behavioral challenges in fragile X syndrome and implications for measuring treatment benefit in clinical trials.Journal of patient-reported outcomes · 2026Article
- Fragile X Syndrome in Adulthood: A Study of Electronic Health Records.American journal on intellectual and developmental disabilities · 2026Article
- Small Molecule Modulation of APOBEC3A-Catalyzed Cytosine Deamination in CCG Repeat Deoxyribonucleic Acid via Stabilization of Hairpin Structures.Biochemistry · 2025Article
- Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.Nature genetics · 2025Review
- Article
- Assessing Autism Co-Occurrence in Fragile X Syndrome: Proposing a Preliminary CARS-2 Cut-Off Score.Journal of autism and developmental disorders · 2025Article
- From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research.Biomedicines · 2025Review
- The multifaceted role of mitochondria in autism spectrum disorder.Molecular psychiatry · 2025Review
- Description and predictors of self-determination in males and females with fragile X syndrome on the verge of adulthood.Journal of intellectual disability research : JIDR · 2024Article
- Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.International journal of neonatal screening · 2024Article
- From wings to whiskers to stem cells: why every model matters in fragile X syndrome research.Journal of neurodevelopmental disorders · 2024Review
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Genes · 2024Review
- Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome.Journal of neurodevelopmental disorders · 2024Article
- Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.JAMA network open · 2024Article
143 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
7 authors at 1 institution in 1 country.
Funding
Abstract
Fragile X syndrome (FXS) results from a CGG-repeat expansion that triggers hypermethylation and silencing of the FMR1 gene. FXS is referred to as the most common form of inherited intellectual disability, yet its true incidence has never been measured directly by large population screening. Here, we developed an inexpensive and high-throughput assay to quantitatively assess FMR1 methylation in DNA isolated from the dried blood spots of 36,124 deidentified newborn males. This assay displays 100% specificity and 100% sensitivity for detecting FMR1 methylation, successfully distinguishing normal males from males with full-mutation FXS. Furthermore, the assay can detect excess FMR1 methylation in 82% of females with full mutations, although the methylation did not correlate with intellectual disability. With amelogenin PCR used for detecting the presence of a Y chromosome, this assay can also detect males with Klinefelter syndrome (KS) (47, XXY). We identified 64 males with FMR1 methylation and, after confirmatory testing, found seven to have full-mutation FXS and 57 to have KS. Because the precise incidence of KS is known, we used our observed KS incidence as a sentinel to assess ascertainment quality and showed that our KS incidence of 1 in 633 newborn males was not significantly different from the literature incidence of 1 in 576 (p = 0.79). The seven FXS males revealed an FXS incidence in males of 1 in 5161 (95% confidence interval of 1 in 10,653-1 in 2500), consistent with some earlier indirect estimates. Given the trials now underway for possible FXS treatments, this method could be used in newborn or infant screening as a way of ensuring early interventions for FXS.
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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.