ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 3 of them syntheses that pooled it.
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The trial behind it
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Who cites it
116 citing papers in PubMed, 3 syntheses or guidelines pooled it, 176 citations in OpenAlex.
- Does theFMR1 gene affect IVF success?Reproductive biomedicine online · 2019Pooled it
- The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Journal of assisted reproduction and genetics · 2016Pooled 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
- Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China.Molecular genetics & genomic medicine · 2026Article
- Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- Screening of CGG Trinucleotide Repeats WithinJournal of the Korean Academy of Child and Adolescent Psychiatry · 2026Article
- Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness.Cureus · 2025Article
- Population-scale Long-read Sequencing in themedRxiv : the preprint server for health sciences · 2025Article
- Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials.Annals of neurology · 2025Article
- A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.International journal of molecular sciences · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.Nature genetics · 2025Article
- Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis.Frontiers in neuroscience · 2025Article
- Beyond the Synapse:International journal of molecular sciences · 2024Review
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Review
- Population-based FMR1 carrier screening among reproductive women.Journal of assisted reproduction and genetics · 2024Article
- Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases.Biomolecules · 2024Review
- Prevalence of theGenes · 2024Article
56 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThe ability to accurately predict the likelihood of expansion of the CGG repeats in the FMR1 gene to a full mutation is of critical importance for genetic counseling of women who are carriers of premutation alleles (55-200 CGG repeats) and who are weighing the risk of having a child with fragile X syndrome. The presence of AGG interruptions within the CGG repeat tract is thought to decrease the likelihood of expansion to a full mutation during transmission, thereby reducing risk, although their contribution has not been quantified.
methodsWe retrospectively analyzed 267 premutation alleles for number and position of AGG interruptions, length of pure CGG repeats, and CGG repeat lengths present in the offspring of the maternal transmissions. In addition, we determined the haplotypes of four markers flanking the 5'-UTR locus in the premutation mothers.
resultsWe found that the presence of AGG interruptions significantly increased genetic stability, whereas specific haplotypes had a marginal association with transmission instability.
conclusionThe presence of AGG interruptions reduced the risk of transmission of a full mutation for all maternal (premutation) repeat lengths below ~100 CGG repeats, with a differential risk (0 vs. 2 AGG) exceeding 60% for alleles in the 70- to 80-CGG repeat range.
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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.