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Article

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

Nature genetics - 1 Jun 1993

Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk A J, Jorens H Z, Darby J K, Oostra B

Abstract excerpt

Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)n repeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR-1) located in Xq27.3. Anticipation in this syndrome is associated with progressive amplification of the (CGG)n repeat from a premutation to a full mutation through consecutive generations. Remarkably, expansion of the...

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PMID: 8348152
DOI: 10.1038/ng0693-143

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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→

Click a neighbor to travelStep 1 · 12 closest

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.PMID 8348152Read ↗

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

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.Semantic proximity Read ↗

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.Semantic proximity Read ↗

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

Paternal transmission of fragile X syndrome.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 ↗

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 ↗

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

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

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

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

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.Semantic proximity Read ↗

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