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Article

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.

The Journal of molecular diagnostics : JMD - 1 Jul 2009

Fernandez-Carvajal Isabel, Lopez Posadas Blanca, Pan Ruiqin, Raske Christopher, Hagerman Paul J, Tassone Flora

Abstract excerpt

Fragile X Syndrome is caused by the expansion of an unstable CGG-repeat tract in the 5'-UTR of the FMR1 gene, which generally results in transcriptional silencing and consequent absence of the FMR1 protein. To date, the smallest premutation allele reported to expand to a full mutation allele in a single generation is 59 CGG repeats. Here, we report a single-generation expansion to a full mutation allele (male...

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Share to Fragile X Mental Retardation Protein

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Source

Open in PubMed Open full text

Identifiers

PMID: 19525339
DOI: 10.2353/jmoldx.2009.080174
PMCID: PMC2710706

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.PMID 19525339Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

Familial transmission of the FMR1 CGG repeat.Semantic proximity Read ↗

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.Semantic proximity Read ↗

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.Semantic proximity Read ↗

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

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Semantic proximity Read ↗

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Semantic proximity Read ↗

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.Semantic proximity Read ↗

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Semantic proximity Read ↗

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.Semantic proximity Read ↗

FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Semantic proximity Read ↗

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