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Article

Unstable mutations in the FMR1 gene and the phenotypes.

Advances in experimental medicine and biology - 1 Jan 2012

Loesch Danuta, Hagerman Randi

Abstract excerpt

Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable ('dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene. These expansions, termed full mutations, normally silence this gene's promoter through methylation, leading to a gross deficit of the Fragile X...

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Source

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Identifiers

PMID: 23560306
DOI: 10.1007/978-1-4614-5434-2_6
PMCID: PMC4124039

Genes

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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