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Article

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.

European journal of human genetics : EJHG - 1 Feb 2008

Tabolacci Elisabetta, Pomponi Maria Grazia, Pietrobono Roberta, Chiurazzi Pietro, Neri Giovanni

Abstract excerpt

Fragile X syndrome (FXS) is caused mostly by expansion and subsequent methylation of the CGG repeat in the 5'UTR of the FMR1 gene, resulting in silencing of the gene, absence of FMRP and development of the FXS phenotype. The expansion also predisposes the CGG repeat and the flanking regions to further instability that may lead to mosaics between a full mutation and a premutation or, rarely, a normal or deleted...

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Source

Identifiers

PMID: 17971832
DOI: 10.1038/sj.ejhg.5201949

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.PMID 17971832Read ↗

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.Semantic proximity Read ↗

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

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

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.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 ↗

Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.Semantic proximity Read ↗

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.Semantic proximity Read ↗

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.Semantic proximity Read ↗

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.Semantic proximity Read ↗

Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.Semantic proximity Read ↗

Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.Semantic proximity Read ↗

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

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