ArticleThe Journal of molecular diagnostics : JMD2017
Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.
Article in The Journal of molecular diagnostics : JMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Article
- High-Sensitivity Fluorescence-Based Detection of Reverse Transcriptase Read-Through of GC-Rich Short Tandem Repeat RNA.Analytical chemistry · 2025Article
- Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles.American journal of medical genetics. Part A · 2019Article
- Assays for Determining Repeat Number, Methylation Status, and AGG Interruptions in the Fragile X-Related Disorders.Methods in molecular biology (Clifton, N.J.) · 2019Article
- Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.Nucleic acids research · 2018Review
- Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.International journal of neonatal screening · 2018Article
- Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.Frontiers in genetics · 2018Article
- Recent advances in assays for the fragile X-related disorders.Human genetics · 2017Review
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Authors and funding
2 authors.
Funding
Abstract
The learning disability fragile X syndrome results from the presence of >200 CGG/CCG repeats in exon 1 of the X-linked gene FMR1. Such alleles arise by expansion from maternally transmitted FMR1 premutation alleles, alleles having 55 to 200 repeats. Expansion risk is directly related to maternal repeat number. However, AGG interruptions to the repeat tract are important modifiers of expansion risk. Thus, the ability to identify such interruptions is crucial for the appropriate genetic counseling of females who are premutation carriers. First-generation triplet-primed PCR assays allow these interruptions to be detected. However, because the triplet primer used has multiple binding sites in the repeat tract, interpreting the results is not straightforward and it is not always possible to unambiguously determine the AGG-interruption status in females because of the difficulties associated with the presence of a second X chromosome. Interpretation is further complicated by any repeat size mosaicism that may be present. We have developed second-generation PCR assays that prime specifically at the interruptions. These assays are simpler to interpret and better able to evaluate this important determinant of expansion risk in females even in those with a mixture of premutation allele sizes.
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