ArticleAmerican journal of human genetics1996
Familial transmission of the FMR1 CGG repeat.
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 71 papers, 2 of them syntheses 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
71 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- 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
- FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Trial
- Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China.Molecular genetics & genomic medicine · 2026Article
- A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.Nature genetics · 2024Article
- Prevalence and implications of fragile X premutation screening in Thailand.Scientific reports · 2024Article
- The Impact of Mild Chronic Stress and Maternal Experience in theInternational journal of molecular sciences · 2023Article
- FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.American journal on intellectual and developmental disabilities · 2023Article
- Astrocytes in fragile X syndrome.Frontiers in cellular neuroscience · 2023Review
- Mechanisms of robustness in gene regulatory networks involved in neural development.Frontiers in molecular neuroscience · 2023Review
- Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Autistic-like behavioral effects of prenatal stress in juvenile Fmr1 mice: the relevance of sex differences and gene-environment interactions.Scientific reports · 2022Article
- Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- 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
- Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.Psychoneuroendocrinology · 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
- Screening forBioMed research international · 2021Article
- Maternal Mental Health and Parenting Stress and Their Relationships to Characteristics of the Child With Fragile X Syndrome.Frontiers in psychiatry · 2021Article
- The Phenotypic Profile Associated With theFrontiers in psychiatry · 2021Article
11 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
12 authors.
Funding
Abstract
To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats (40-60) were analyzed. Expansion of the fragile X chromosome to the full mutation was seen in 13.4% of offspring from premutation mothers with 56-59 repeats, 20.6% of those with 60-69 repeats, 57.8% of those with 70-79 repeats, 72.9% of those with 80-89 repeats, and 97.3% of those with 90-199 repeats. For premutation fathers, the majority (62%) of their daughters had a larger repeat number, while a few had either a smaller (22%) or the same (16%) repeat number, compared with their fathers' sizes. However, daughters with a smaller repeat number were observed only if their fathers had > or = 80 repeats. Fifteen (39.5%) of 38 such daughters carried a smaller repeat than did their fathers. We observed that a similar repeat number was inherited more often than expected by chance, among the members of a sibship segregating fragile X. This familial clustering, observed in the offspring of both males and females with a premutation, implies there may be an additional factor, independent of parental repeat size, that influences CGG-repeat instability. Instability in gray-zone allele transmissions was observed in 25% of alleles with 50-60 CGGs but in <8% of those with 40-49 CGGs. Examination of gray-zone allele organization revealed that long tracts of pure CGGs (>34) are not always unstably transmitted. These results raise new questions regarding the familial factors that may determine transmission expansions.
Indexed as
Identifiers
8940270PMC1914886What 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.