Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

doi:10.1136/jmg.35.2.103

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Article

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

Journal of medical genetics - 1 Feb 1998

Wöhrle D, Salat U, Gläser D, Mücke J, Meisel-Stosiek M, Schindler D, Vogel W, Steinbach P

Abstract excerpt

We report on further cases of high functioning fragile X males showing decreased expression of FMR1 protein, absence of detectable methylation at the EagI site in the FMR1 gene promoter, and highly unusual patterns of fragile X mutations defined as smear of expansions extending from premutation t...

Topics

Blotting, Southern
Child, Preschool
Chorionic Villi
DNA Methylation
DNA Restriction Enzymes
Electrophoresis, Agar Gel
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Humans
Immunohistochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Male

Middle Aged

Mosaicism

Mutation

Nerve Tissue Proteins

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 9507388
DOI: 10.1136/jmg.35.2.103
PMCID: PMC1051212

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9507388-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.PMID 9507388Read ↗

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

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 ↗

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

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

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FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.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 ↗

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

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

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