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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 to full mutation range. Very diffuse and therefore not easily detectable patterns of full mutations were also observed...

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Identifiers

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

Genes

FMR1

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

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 ↗

A fragile X case with an amplification/deletion mosaic pattern.Semantic proximity Read ↗

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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