ArticleEuropean journal of human genetics : EJHG2011
A nonsense mutation in FMR1 causing fragile X syndrome.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.European journal of human genetics : EJHG · 2017Pooled it
- FMRP regulates MFF translation to locally direct mitochondrial fission in neurons.Nature cell biology · 2024Article
- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Epilepsy Characteristics in Neurodevelopmental Disorders: Research from Patient Cohorts and Animal Models Focusing on Autism Spectrum Disorder.International journal of molecular sciences · 2022Review
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development.Journal of developmental biology · 2021Review
- Pharmacological and Therapeutic Approaches in the Treatment of Epilepsy.Biomedicines · 2021Review
- FMRP-Driven Neuropathology in Autistic Spectrum Disorder and Alzheimer's disease: A Losing Game.Frontiers in molecular biosciences · 2021Review
- FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability.Complex psychiatry · 2020Review
- Analysis of gene variants in the GASH/Sal model of epilepsy.PloS one · 2020Article
- Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats.Cerebral cortex (New York, N.Y. : 1991) · 2019Article
- Rare FMR1 gene mutations causing fragile X syndrome: A review.American journal of medical genetics. Part A · 2018Review
- Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.Journal of human genetics · 2017Article
- Fragile X syndrome and fragile X-associated disorders.F1000Research · 2017Review
- Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.Cold Spring Harbor molecular case studies · 2015Article
- A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.EMBO molecular medicine · 2015Article
- Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP.Journal of experimental neuroscience · 2015Review
- Emerging pharmacologic treatment options for fragile X syndrome.The application of clinical genetics · 2015Review
- Fragile X syndrome due to a missense mutation.European journal of human genetics : EJHG · 2014Article
- C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Acta neuropathologica · 2014Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1. Alleles with 200 or more repeats become hypermethylated and transcriptionally silent. Only few patients with intragenic point mutations in FMR1 have been reported and, currently, routine analysis of patients referred for fragile X syndrome includes solely analysis for repeat expansion and methylation status. We identified a substitution in exon 2 of FMR1, c.80C>A, causing a nonsense mutation p.Ser27X, in a patient with classical clinical symptoms of fragile X syndrome. The mother who carried the mutation in heterozygous form presented with mild intellectual impairment. We conclude that further studies including western blot and DNA sequence analysis of the FMR1 gene should be performed in patients with typical symptoms of fragile X syndrome in whom no CGG repeat expansion is detected.
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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.