Origins of the fragile X syndrome mutation.
Open accessAbstract
The fragile X syndrome is a common cause of mental impairment. In view of the low reproductive fitness of affected males, the high incidence of the syndrome has been suggested to be the result of a high rate of new mutations occurring exclusively in the male germline. Extensive family studies, however, have failed to identify any cases of a new mutation. Alternatively, it has been suggested that a selective advantage of unaffected heterozygotes may, in part, explain the high incidence of the syndrome. Molecular investigations have shown that the syndrome is caused by the amplification of a CGG trinucleotide repeat in the FMR-1 gene which leads to the loss of gene expression. Further to this, genetic studies have suggested that there is evidence of linkage disequilibrium between the fragile X disease locus and flanking polymorphic markers. More recently, this analysis has been extended and has led to the observation that a large number of fragile X chromosomes appear to be lineage descendants of founder mutation events. Here, we present a study of the FRAXAC1 polymorphic marker in our patient cohort. We find that its allele distribution is strikingly different on fragile X chromosomes, confirming the earlier observations and giving further support to the suggestions of a fragile X founder effect.
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Fragile X syndrome affects roughly 1 in 2,500 to 5,000 men and 1 in 4,000 to 6,000 women.
“Estimates report that FXS affects approximately 1 in 2,500 to 5,000 men and 1 in 4,000 to 6,000 women (2, 3).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [3]
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- Authors
- Hirst, M. C., Knight, S. J., Christodoulou, Z., Grewal, P. K., Fryns, J. P., & Davies, K. E.
- Affiliations
- John Radcliffe Hospital (GB)
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1993-08
- Volume
- 30
- Issue
- 8
- Pages
- 647-650
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1016491
- OpenAlex
- W1972369322
- Cited by
- 53
- References
- 27
- Citations by year
- 2024: 1 · 2022: 1 · 2019: 3 · 2018: 1 · 2017: 3 · 2016: 1 · 2014: 2 · 2012: 1
- FWCI
- 4.21
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- fragile X syndrome, founder effect, FMR1 gene, CGG repeat expansion, allele distribution, fragile X chromosome, linkage disequilibrium, intellectual disability
- MeSH terms
- Alleles, Fragile X Syndrome, Haplotypes, Humans, Male, Mutation, Repetitive Sequences, Nucleic Acid
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