ArticleAmerican journal of human genetics1996
Mental status of females with an FMR1 gene full mutation.
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. It is linked to trial NCT07654114 (Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome), which is not on this map. Cited by 70 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome
Who cites it
70 citing papers in PubMed, 2 syntheses or guidelines pooled it, 207 citations in OpenAlex.
- ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Effects of AFQ056 on language learning in fragile X syndrome.The Journal of clinical investigation · 2023Trial
- Prevalence of fragile X syndrome in South Asia, and importance of diagnosis.Medical review (2021) · 2025Review
- HeterozygousHeliyon · 2024Article
- Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome.SAGE open medicine · 2024Article
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Understanding the Molecular Basis of Fragile X Syndrome Using Differentiated Mesenchymal Stem Cells.Iranian journal of child neurology · 2022Article
- Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Annals of laboratory medicine · 2021Article
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- FMRP regulates the subcellular distribution of cortical dendritic spine density in a non-cell-autonomous manner.Neurobiology of disease · 2021Article
- Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents.Journal of autism and developmental disorders · 2020Article
- Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.Journal of neurodevelopmental disorders · 2019Article
- Syntactic Ability of Girls With Fragile X Syndrome: Phonological Memory and Discourse Demands on Complex Sentence Use.American journal on intellectual and developmental disabilities · 2019Article
- Pharmacological Reactivation of the SilencedBrain sciences · 2019Review
- Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.Brain sciences · 2019Article
- Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.Nature reviews. Drug discovery · 2018Review
- CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.European journal of human genetics : EJHG · 2018Article
- Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency.Molecular diagnosis & therapy · 2018Article
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
10 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
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected. In this study, the intelligence quotients (IQs) were ascertained by the Wechsler Adult Intelligence Scale in 33 adult females with a full mutation, with 28 first-degree adult female relatives (mainly sisters) without a full mutation as controls. Seventy-one percent of the females with a full mutation had IQ scores below 85. In paired analysis, no significant correlation could be detected between the IQs of the females with a full mutation and those of their first-degree female relatives, reflecting a dominant effect of the FMR1 gene full mutation in the mental development of females. Considering females with a full mutation only, we observed a significant relation between the proportion of normal FMR1 alleles on the active X chromosome and IQ. We present a model to explain this relationship.
Indexed as
Identifiers
8651263PMC1914633W1568074043What 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.