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Article

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

American journal of medical genetics - 30 Jul 1999

Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo M P, Argusti A, Pomponi M G, Lecora M, Sebastio G F, Perroni L, Andria G, Neri G, Bricarelli F D

Abstract excerpt

The molecular mechanism of the fragile X syndrome is based on the expansion of an unstable CGG repeat in the 5' untranslated region of the FMR1 gene in most patients. This expansion is associated with an abnormal DNA methylation leading to the absence of production of FMR1 protein (FMRP). Such expansion apparently predisposes the repeat and flanking regions to further instability that may lead to mosaic...

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Identifiers

PMID: 10398249
DOI: 10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co;2-a

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.

Related research

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Research trail→

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Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.PMID 10398249Read ↗

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 ↗

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

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

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

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

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 ↗

Finding FMR1 mosaicism in Fragile X syndrome.Semantic proximity Read ↗

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

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

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