ArticleAmerican journal of medical genetics. Part A2010
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 119 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
- Article
- A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.European journal of human genetics : EJHG · 2025Article
- The Role of mRNA Alternative Processing in Mammalian Neurodevelopment.International journal of molecular sciences · 2025Review
- FMR1 KH0-KH1 domains coordinate mExperimental cell research · 2025Article
- Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum byBrain communications · 2025Article
- Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2023Article
- Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.Archives of pharmacal research · 2023Review
- Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.International journal of molecular sciences · 2023Review
- Characterization of Fragile X Mental Retardation Protein expression in human nociceptors and their axonal projections to the spinal dorsal horn.The Journal of comparative neurology · 2023Article
- Function of FMRP Domains in Regulating Distinct Roles of Neuronal Protein Synthesis.Molecular neurobiology · 2022Article
- Folding Mechanism and Aggregation Propensity of the KH0 Domain of FMRP and Its R138Q Pathological Variant.International journal of molecular sciences · 2022Article
- FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice.Nature communications · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- FMRP-PKA Activity Negative Feedback Regulates RNA Binding-Dependent Fibrillation in Brain Learning and Memory Circuitry.Cell reports · 2020Article
- FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability.Complex psychiatry · 2020Review
- Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.Critical reviews in biochemistry and molecular biology · 2020Review
- Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction.Molecular psychiatry · 2020Review
7 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled-template massively parallel sequencing, we identified 130 novel FMR1 sequence variants in a population of 963 developmentally delayed males without CGG-repeat expansion mutations. Among these, we identified a novel missense change, p.R138Q, which alters a conserved residue in the nuclear localization signal of FMRP. We have also identified three promoter mutations in this population, all of which significantly reduce in vitro levels of FMR1 transcription. Additionally, we identified 10 noncoding variants of possible functional significance in the introns and 3'-untranslated region of FMR1, including two predicted splice site mutations. These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay.
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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.