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Article

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

Human mutation - 1 Mar 2017

Ardui Simon, Race Valerie, Zablotskaya Alena, Hestand Matthew S, Van Esch Hilde, Devriendt Koenraad, Matthijs Gert, Vermeesch Joris R

Abstract excerpt

The FMR1 gene contains an unstable CGG repeat in its 5' untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associated primary ovarian insufficiency. Furthermore, the premutation allele often expands to a full mutation during female germline transmission giving rise to the fragile X syndrome. The...

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Source

Identifiers

PMID: 27883256
DOI: 10.1002/humu.23150

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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Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.PMID 27883256Read ↗

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CGG repeat in the FMR1 gene: size matters.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 ↗

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Non-CGG trinucleotide repeat expansions as pathogenic genetic mutations in Fragile X SyndromeSemantic proximity Read ↗

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Semantic proximity Read ↗

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

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

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