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Article

Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.

Journal of medical genetics - 1 Nov 1995

Pintado E, de Diego Y, Hmadcha A, Carrasco M, Sierra J, Lucas M

Abstract excerpt

Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cytogenetic and molecular status. We have studied, in a large fragile X family, the correlation...

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Source

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Identifiers

PMID: 8592340
DOI: 10.1136/jmg.32.11.907
PMCID: PMC1051748

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

Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.PMID 8592340Read ↗

Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome.Semantic proximity Read ↗

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

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Semantic proximity Read ↗

FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.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 ↗

Normal phenotype in two brothers with a full FMR1 mutation.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 a CGG sequence at the FMR-1 locus in fragile X families and in the general population.Semantic proximity Read ↗

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

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

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

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.Semantic proximity Read ↗

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