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Article

FRA2A is a CGG repeat expansion associated with silencing of AFF3.

PLoS genetics - 1 Apr 2014

Metsu Sofie, Rooms Liesbeth, Rainger Jacqueline, Taylor Martin S, Bengani Hemant, Wilson David I, Chilamakuri Chandra Sekhar Reddy, Morrison Harris, Vandeweyer Geert, Reyniers Edwin, Douglas Evelyn, Thompson Geoffrey, Haan Eric, Gecz Jozef, Fitzpatrick David R, Kooy R Frank

Abstract excerpt

Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID). Cytogenetic expression results from CGG tri-nucleotide-repeat expansion mutation associated with local CpG hypermethylation and transcriptional silencing. The best studied is the FRAXA site in the FMR1 gene, where...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24763282
DOI: 10.1371/journal.pgen.1004242
PMCID: PMC3998887

Genes

AFF3
AFF2
FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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FRA2A is a CGG repeat expansion associated with silencing of AFF3.PMID 24763282Read ↗

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