Trial reportAmerican journal of human genetics1994
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.
Trial report in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 294 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome.Journal of developmental and behavioral pediatrics : JDBP · 2016Trial
- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.The Journal of molecular diagnostics : JMD · 2024Article
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Mechanisms of theInternational journal of molecular sciences · 2022Review
- Cluttering in the Speech of Young Men With Fragile X Syndrome.Journal of speech, language, and hearing research : JSLHR · 2022Article
- The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.American journal of medical genetics. Part A · 2022Article
- Family as a Context for Child Development: Mothers with the FMR1 Premutation and Their Children with Fragile X Syndrome.Seminars in speech and language · 2021Review
- An "Omic" Overview of Fragile X Syndrome.Biology · 2021Review
- Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study.Frontiers in pharmacology · 2021Article
- Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments.Frontiers in psychiatry · 2021Review
- DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.International journal of molecular sciences · 2020Article
- Effect of AGG Interruptions onFrontiers in molecular biosciences · 2020Article
- Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.Journal of neurodevelopmental disorders · 2019Article
- Significantly ElevatedInternational journal of molecular sciences · 2019Article
- Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Molecular autism · 2019Article
- The Fragile X Protein and Genome Function.Molecular neurobiology · 2019Review
- Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in theFrontiers in genetics · 2017Article
- CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.Stem cell reports · 2016Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the results of a 14-center collaborative study of genotype-phenotype correlations in 318 fragile X families; these families comprised 2,253 individuals, 1,344 of whom carried a fragile X mutation and 693 of whom had a typical full fragile X mutation. This study demonstrates that direct DNA diagnosis establishes the genotype at the FRAXA-FMR-1 locus. There was a significantly higher prevalence of "mosaic" cases among males who carry a full mutation (12%) than among females who carry a full mutation (6%); the mosaic males had a larger expansion than did the mosaic females. Mental status of premutated individuals did not differ from that of those with a normal genotype. Both the abnormal methylation of the FMR-1-EagI site and the size of the expansion were highly correlated with cytogenetics, facial dysmorphism, macroorchidism, and mental retardation (MR). Among female carriers of a full mutation, those with MR had significantly larger expansion than did those without MR. Among 164 independent couples, 3 unrelated husbands carried a premutation that suggests that the prevalence of fragile X premutations in the general population is approximately 0.9% of the X chromosomes. Our data validate the use of direct DNA testing for fragile X diagnosis as well as for carrier identification and support and complete the established relationships among the DNA results and the cytogenetic, physical, and psychological aspects of the disease.
Indexed as
Identifiers
8037202PMC1918361W1511922211What 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.