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Article

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.

Scientific reports - 28 Jan 2021

Annear Dale J, Vandeweyer Geert, Elinck Ellen, Sanchis-Juan Alba, French Courtney E, Raymond Lucy, Kooy R Frank

Abstract excerpt

Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative disorders, including the fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). We hypothesized that as of yet uncharacterised CGG-repeat expansions within the genome contribute to human disease. To catalogue the CGG-repeats, 544 human whole genomes were analyzed. In total, 6101 unique CGG-repeats were detected...

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Source

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Identifiers

PMID: 33510257
DOI: 10.1038/s41598-021-82050-5
PMCID: PMC7844047

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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