ArticleAmerican journal of human genetics1995
The fragile X premutation in carriers and its effect on mutation size in offspring.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- 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
- Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.Frontiers in molecular neuroscience · 2017Review
- FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Genetics research · 2016Article
- EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.European journal of human genetics : EJHG · 2015Article
- Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.Journal of genetic counseling · 2014Article
- The FMR1 gene, infertility, and reproductive decision-making: a review.Frontiers in genetics · 2014Review
- Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.European journal of human genetics : EJHG · 2011Article
- The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.The Clinical biochemist. Reviews · 2011Article
- Emotional reaction to fragile X premutation carrier tests among infertile women.Journal of genetic counseling · 2008Article
- Facile FMR1 mRNA structure regulation by interruptions in CGG repeats.Nucleic acids research · 2005Article
- Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2000Article
- FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.American journal of human genetics · 1999Article
- Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.Molecular and cellular biology · 1999Article
- Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.Nucleic acids research · 1998Article
- Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.American journal of human genetics · 1997Article
- Familial transmission of the FMR1 CGG repeat.American journal of human genetics · 1996Article
- Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.Human genetics · 1996Article
- Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The pattern of inheritance in the fragile X (fra(X)) mutation follows a multistage intergenerational process in which the premutation evolves into the full mutation and the characteristic phenotype of the fra(X) syndrome after passing through oogenesis or a postzygotic event. Findings from our multicenter study confirm a strong direct relationship between fra(X) premutation size in the mother and probability of a full mutation in offspring with the mutation. Remarkably, the best-fitting equations are nonlinear asymptotic functions. The close approximation to both the logistic model and Gompertz suggests a process of accumulation of errors in DNA synthesis, as has been proposed previously. We also note that a larger-than-expected number of daughters of transmitting males have premutations that are smaller than their fathers', and that proportion is significantly higher than the proportion of daughters whose premutations are smaller than their mothers'. Intergenerational decreases in premutation size have been reported in other trinucleotide-repeat disorders and also appear to be parent-of-origin specific. Thus, while intergenerational expansion to the full mutation in fra(X) may manifest a postzygotic event, decreases in mutation size may occur during or prior to meiosis.
Indexed as
Identifiers
7726171PMC1801463W134888444What 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.