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Article

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

American journal of human genetics - 1 Sept 1995

de Graaff E, Willemsen R, Zhong N, de Die-Smulders C E, Brown W T, Freling G, Oostra B

Abstract excerpt

The molecular mechanism of the fragile X syndrome is based on the expansion of an CGG repeat in the 5' UTR of the FMR1 gene in the majority of fragile X patients. This repeat displays instability both between individuals and within an individual. We studied the instability of the CGG repeat and the expression of the FMR1 protein (FMRP) in several different tissues derived from a male fragile X patient. Using...

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Identifiers

PMID: 7668289
PMCID: PMC1801284

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.

Related research

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Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.PMID 7668289Read ↗

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.Semantic proximity Read ↗

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.Semantic proximity Read ↗

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

FMR1 premutation allele (CGG)81 is stable in mice.Semantic proximity Read ↗

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.Semantic proximity Read ↗

[Analysis of CGG repeat instability in germline cells from two male fetuses affected with fragile X syndrome].Semantic proximity Read ↗

Normal phenotype in two brothers with a full FMR1 mutation.Semantic proximity Read ↗

Postmortem examination of two fragile X brothers with an FMR1 full mutation.Semantic proximity Read ↗

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.Semantic proximity Read ↗

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Semantic proximity Read ↗

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