ArticleJournal of medical genetics2000
FRAXA and FRAXE: the results of a five year survey.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
41 citing papers in PubMed, 120 citations in OpenAlex.
- A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.International journal of molecular sciences · 2025Article
- Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.Nature genetics · 2025Review
- Dysregulated Purinergic Signalling in Fragile X Syndrome Cortical Astrocytes.Neuromolecular medicine · 2024Article
- 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
- Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador.Frontiers in psychiatry · 2021Article
- Screening forBioMed research international · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Article
- The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC).Wellcome open research · 2019Article
- FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.Genes · 2017Article
- Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.Journal of human genetics · 2017Article
- Review
- Autism spectrum disorder: FRAXE mutation, a rare etiology.Journal of autism and developmental disorders · 2015Article
- Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.PloS one · 2015Article
- Fragile X spectrum disorders.Intractable & rare diseases research · 2014Review
- In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.BioMed research international · 2014Article
- Development and validation of a multiplex-PCR assay for X-linked intellectual disability.BMC medical genetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the results of a five year survey of FRAXA and FRAXE mutations among boys aged 5 to 18 with special educational needs (SEN) related to learning disability. We tested their mothers using the X chromosome not transmitted to the son as a control chromosome, and the X chromosome inherited by the son to provide information on stability of transmission. We tested 3738 boys and 2968 mothers and found 20 FRAXA and one FRAXE full mutations among the boys and none among the mothers. This gives an estimated prevalence of full mutations in males of 1 in 5530 for FRAXA and 1 in 23 423 for FRAXE. We found an excess of intermediate and premutation alleles for both FRAXA and FRAXE. For FRAXA this was significant at the 0.001 level but the excess for FRAXE was significant only at the 0.03 level. We conclude that the excess of intermediate and premutation sized alleles for FRAXA may well be a contributing factor to the boys' mental impairment, while that for FRAXE may be a chance finding. We studied approximately 3000 transmissions from mother to son and found five instabilities of FRAXA in the common or intermediate range and three instabilities of FRAXE in the intermediate range. Thus instabilities in trinucleotide repeat size for FRAXA and FRAXE are rare, especially among alleles in the common size range.
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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.