ArticleMolecular autism2019
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Article in Molecular autism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.Journal of neurodevelopmental disorders · 2026Article
- In Utero Alcohol and Unsuitable Home Environmental Exposure Combined withInternational journal of molecular sciences · 2025Article
- Diagnostic value of molecular approach in screening for fragile X premutation cases.Irish journal of medical science · 2023Article
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications.Journal of neurology · 2022Review
- Article
- The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.American journal of medical genetics. Part A · 2022Article
- Parental Reports on Early Autism Behaviors in Their Children with Fragile X Syndrome as a Function of Infant Feeding.Nutrients · 2021Article
- Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments.Frontiers in psychiatry · 2021Review
- Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.The application of clinical genetics · 2021Review
- The Phenotypic Profile Associated With theFrontiers in psychiatry · 2021Article
- The Use of Peptides in the Treatment of Fragile X Syndrome: Challenges and Opportunities.Frontiers in psychiatry · 2021Article
- Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.Translational psychiatry · 2020Article
- Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder.Pediatrics · 2020Article
- FMR1 mRNA from full mutation alleles is associated with ABC-CScientific reports · 2020Article
- Review
- Molecular analysis ofExpert review of molecular diagnostics · 2020Article
- Top ten discoveries of the year: Neurodevelopmental disorders.Free neuropathology · 2020Article
- Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.Journal of neurodevelopmental disorders · 2019Article
- Significantly ElevatedInternational journal of molecular sciences · 2019Article
Corrections and comments
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Authors and funding
24 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the Methods: The study cohort included 98 participants (70.4% male) with FXS (FM-only and PM/FM mosaic) aged 1-43 years. A control group of 14 females were used to establish control Results: Females with FXS had significantly higher levels of Conclusion: Incomplete silencing of toxic FM RNA may be associated with autistic features, but not intellectual functioning in FXS males. While decreased levels of mRNA may be more predictive of intellectual functioning than autism features. If confirmed in future studies, these findings may have implications for patient stratification, outcome measure development, and design of clinical and pre-clinical trials in FXS.
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Registered trials
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