ArticleAmerican journal of human genetics1997
Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- In Utero Alcohol and Unsuitable Home Environmental Exposure Combined withInternational journal of molecular sciences · 2025Article
- 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
- CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons.Cell reports · 2024Article
- Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.Emerging topics in life sciences · 2023Review
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- Review
- Reversion to Normal ofGenes · 2020Article
- Size and methylation mosaicism in males with Fragile X syndrome.Expert review of molecular diagnostics · 2017Article
- FRA2A is a CGG repeat expansion associated with silencing of AFF3.PLoS genetics · 2014Article
- Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.Journal of medical genetics · 2011Article
- Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2011Article
- A nonsense mutation in FMR1 causing fragile X syndrome.European journal of human genetics : EJHG · 2011Article
- Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.The Journal of biological chemistry · 2009Review
- Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.American journal of medical genetics. Part A · 2008Review
- DNA methylation and replication: implications for the "deletion hotspot" region of FMR1.Human genetics · 2005Article
- Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect.BMC molecular biology · 2003Article
- Chromosomal fragility and human genetic disorders.Indian journal of clinical biochemistry : IJCB · 2000Article
- The fragile X syndrome.Journal of medical genetics · 1998Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The fragile X syndrome is due to the new class of dynamic mutations. It is associated with an expansion of a trinucleotide repeat (CGG) in exon 1 of the fragile X mental retardation gene 1 gene (FMR1). Here we present a fragile X family with an unique female patient who was rendered hemizygous for the FRAXA locus due to a large deletion of one X chromosome. In addition, the other X had a microdeletion in FMR1. PCR and sequence analysis revealed that the microdeletion included all CGG repeats plus 97 bp of flanking sequences, leaving transcription start site and translation start site intact. Despite this total lack of CGG repeats in the FMR1 gene, Western blot analysis showed expression of FMRP, and the patient's phenotype was essentially normal. X-inactivation studies of the androgen-receptor (AR) locus and haplotype determination of microsatellite markers gave evidence that the deletion probably originated from regression of a fully mutated FMR1 gene. Although the minimal number of CGG repeats hitherto reported in FRAXA is six, and at least four other genes associated with CGG repeats are known, suggesting an as yet unknown function of these repeats, our study clearly demonstrates that the absence of CGG repeats does not abolish expression of the FMR1 gene in lymphoblastoid cells.
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