ArticleAmerican journal of human genetics1996
A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed, 59 citations in OpenAlex.
- Behavioural, psychiatric, and cognitive phenotypes associated with numbers of repeats of the FRAXE allele on the FMR2 gene.Wellcome open research · 2024Article
- Article
- An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.Frontiers in genetics · 2022Article
- Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers.OBM genetics · 2021Article
- Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.Scientific reports · 2021Article
- The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC).Wellcome open research · 2019Article
- Autism spectrum disorder: FRAXE mutation, a rare etiology.Journal of autism and developmental disorders · 2015Article
- Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2002Article
- Genetic effects on human cognition: lessons from the study of mental retardation syndromes.Journal of neurology, neurosurgery, and psychiatry · 2002Review
- FRAXA and FRAXE: the results of a five year survey.Journal of medical genetics · 2000Article
- Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.American journal of human genetics · 1999Article
- Fragile X syndrome. Molecular and clinical insights and treatment issues.The Western journal of medicine · 1997Review
- FRAXE testing.American journal of human genetics · 1996Article
- The FRAXE Syndrome: is it time for routine screening?American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. The cytogenetic expression of FRAXE is thought to be associated with mental handicap, but this is usually mild compared to that of the more common fragile X syndrome that is associated with the expression of the FRAXA fragile site. The exact incidence of FRAXE mental retardation is uncertain. We describe here the results of a U.K. survey designed to assess the frequency of FRAXE in a population of individuals referred for fragile X syndrome testing and found to be negative for expansion events at the FRAXA locus. No FRAXE expansion events were found in 362 cytogenetically negative males studied, and one expansion event was identified in a sample of 534 males for whom cytogenetic analyses were either unrecorded or not performed. Further FRAXE expansion events were detected in two related females known to be cytogenetically positive for a fragile site in Xq27.3-28. To gain insight into the FRAXE phenotype, the clinical details of the identified FRAXE male plus three other FRAXE individuals identified through previous referrals for fragile X syndrome testing are presented. For the population studied, we conclude that FRAXE mental retardation is a relatively rare but significant form of mental retardation for which genetic diagnosis would be appropriate.
Indexed as
Identifiers
8651274PMC1914619W26360694What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.