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Article

Beyond Repeats: Intragenic Variants in FMR1 and Their Contribution to Fragile X Syndrome Pathogenesis.

Nigerian journal of physiological sciences : official publication of the Physiological Society of Nigeria - 30 Jun 2026

Latunji Abayomi

Abstract excerpt

Fragile X Syndrome (FXS), the most common inherited cause of intellectual disability, is typically caused by expansion of a CGG triplet repeat in the 5' untranslated region (5'-UTR) of the FMR1 gene. Growing evidence indicates that intragenic mutations in FMR1, including single-nucleotide variants (SNVs) and structural changes, can also alter FMR1 function without the classical pathogenic expansion of CGG...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42537027
DOI: 10.54548/

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Beyond Repeats: Intragenic Variants in FMR1 and Their Contribution to Fragile X Syndrome Pathogenesis.PMID 42537027Read ↗

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Semantic proximity Read ↗

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.Semantic proximity Read ↗

Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation.Semantic proximity Read ↗

Non-CGG trinucleotide repeat expansions as pathogenic genetic mutations in Fragile X SyndromeSemantic proximity Read ↗

CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.Semantic proximity Read ↗

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.Semantic proximity Read ↗

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.Semantic proximity Read ↗

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.Semantic proximity Read ↗

Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder.Semantic proximity Read ↗

Common Variant Associations with Fragile X SyndromeSemantic proximity Read ↗

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.Semantic proximity Read ↗

In Silico Analysis of FMR1 Gene Missense SNPs.Semantic proximity Read ↗

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