ArticleAmerican journal of medical genetics. Part A2013
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 1 of them a synthesis that pooled it.
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Who cites it
75 citing papers in PubMed, 1 synthesis or guideline pooled it, 125 citations in OpenAlex.
- Does theFMR1 gene affect IVF success?Reproductive biomedicine online · 2019Pooled it
- Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes.bioRxiv : the preprint server for biology · 2026Article
- Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.European journal of human genetics : EJHG · 2025Article
- A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.International journal of molecular sciences · 2025Article
- Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.Annals of clinical and translational neurology · 2025Article
- Review
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Population-based FMR1 carrier screening among reproductive women.Journal of assisted reproduction and genetics · 2024Article
- Prevalence of theGenes · 2024Article
- Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.Nature reviews. Genetics · 2024Review
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Clinical application value of expanded carrier screening in the population of childbearing age.European journal of medical research · 2023Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review.International journal of molecular sciences · 2022Article
- Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Scientific reports · 2022Article
- Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome.Frontiers in genetics · 2022Review
- Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis.Journal of neuroinflammation · 2021Article
- Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Annals of laboratory medicine · 2021Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 6 institutions in 1 country.
Funding
Abstract
We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45-69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers, and 538 offspring (457 maternal and 81 paternal transmissions) using a novel PCR assay to determine repeat length and AGG interruptions. The number of AGG interruptions and the length of uninterrupted CGG repeats at the 3' end were correlated with repeat instability on transmission. Maternal alleles with no AGGs conferred the greatest risk for unstable transmissions. All nine full mutation expansions were inherited from maternal alleles with no AGGs. Furthermore, the magnitude of repeat expansion was larger for alleles lacking AGG interruptions. Transmissions from paternal alleles with no AGGs also exhibited greater instability than those with one or more AGGs. Our results demonstrate that characterization of the AGG structure within the FMR1 repeat allows more accurate risk estimates of repeat instability and expansion to full mutations for intermediate and small premutation alleles.
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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.