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Article

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.

European journal of human genetics : EJHG - 1 Dec 2008

Tabolacci Elisabetta, Moscato Umberto, Zalfa Francesca, Bagni Claudia, Chiurazzi Pietro, Neri Giovanni

Abstract excerpt

Fragile X syndrome (FXS) is caused by the expansion of a CGG repeat in the 5'UTR of the FMR1 gene and the subsequent methylation of all CpG sites in the promoter region. We recently identified, in unrelated FXS families, two rare males with an unmethylated full mutation, that is, with an expanded CGG repeat (>200 triplets) lacking the typical CpG methylation in the FMR1 promoter. These individuals are not...

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

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Source

Identifiers

PMID: 18628788
DOI: 10.1038/ejhg.2008.130

Genes

FMR1

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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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