Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Abstract
The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been linked to abnormal cytosine methylation of a single CpG island, at or very near the fragile site. Probes adjacent to this island detected very localized DNA rearrangements that constituted the fragile X mutations, and whose target was a 550-base pair GC-rich fragment. Normal transmitting males had a 150- to 400-base pair insertion that was inherited by their daughters either unchanged, or with small differences in size. Fragile X-positive individuals in the next generation had much larger fragments that differed among siblings and showed a generally heterogeneous pattern indicating somatic mutation. The mutated allele appeared unmethylated in normal transmitting males, methylated only on the inactive X chromosome in their daughters, and totally methylated in most fragile X males. However, some males had a mosaic pattern. Expression of the fragile X syndrome thus appears to result from a two-step mutation as well as a highly localized methylation. Carriers of the fragile X mutation can easily be detected regardless of sex or phenotypic expression, and rare apparent false negatives may result from genetic heterogeneity or misdiagnosis.
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The FMR1 expansion causes hypermethylation and silencing of FMR1, leading to absent or reduced FMRP.
“This mutation results in hyper methylation and silencing of FMR1 and absence or reduction of its gene product, fragile X mental retardation protein 1 (FMRP)1,2.”
From Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome (2018) · cites this paper as [1]
Fragile X syndrome is an X-linked neurodevelopmental condition caused by a CGG repeat expansion of more than 200 repeats in the FMR1 promoter.
“Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder caused by a CGG repeat expansion exceeding 200 repeats in the promoter region of FMR1.”
From Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome (2018) · cites this paper as [1]
FMR1 was identified in 1991 by positional cloning and contains a polymorphic CGG triplet in its 5′ UTR.
“Identified in 1991 by positional cloning (8), the FMR1 gene is characterized by the presence of a polymorphic CGG triplet sequence in the 5′ UTR (8, 9).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [9]
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- Authors
- Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Hôpital Nord (FR)
- Venue
- Science
- Published
- 1991-05-24
- Volume
- 252
- Issue
- 5009
- Pages
- 1097-1102
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2051013729
- Cited by
- 1,499
- References
- 35
- Citations by year
- 2026: 3 · 2025: 15 · 2024: 21 · 2023: 15 · 2022: 24 · 2021: 21 · 2020: 20 · 2019: 30 · 2018: 28 · 2017: 30 · 2016: 25 · 2015: 36 · 2014: 42 · 2013: 44 · 2012: 38
- FWCI
- 63.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- fragile X syndrome, DNA instability, CpG island methylation, fragile sites, somatic mutations, X chromosome inactivation, carrier detection, genetic heterogeneity
- MeSH terms
- Base Composition, DNA, Female, Fragile X Syndrome, Genetic Carrier Screening, Humans, Male, Methylation, Mutation, Pedigree, Phenotype, X Chromosome, Restriction Mapping, Gene Rearrangement
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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