ArticleEMBO molecular medicine2015
Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
Article in EMBO molecular medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Assessment and correlates of autistic symptoms in Schizophrenia Spectrum Disorders measured with the PANSS Autism Severity Score: A systematic review.Frontiers in psychiatry · 2022Pooled it
- Article
- Tolerability and first hints for potential efficacy of motor-cognitive training under inspiratory hypoxia in health and neuropsychiatric disorders: A translational viewpoint.Neuroprotection (Chichester, England) · 2024Article
- The FXR1 network acts as signaling scaffold for actomyosin remodeling.bioRxiv : the preprint server for biology · 2024Article
- Autistic symptoms in unaffected first-degree relatives of people with schizophrenia: results from the Italian Network for Research on Psychoses multicenter study.European psychiatry : the journal of the Association of European Psychiatrists · 2023Article
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Can mild cognitive impairment and Alzheimer's disease be diagnosed by monitoring a miRNA triad in the blood?Aging cell · 2022Article
- Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing.Scientific reports · 2022Article
- A microRNA signature that correlates with cognition and is a target against cognitive decline.EMBO molecular medicine · 2021Article
- Multiple inducers and novel roles of autoantibodies against the obligatory NMDAR subunit NR1: a translational study from chronic life stress to brain injury.Molecular psychiatry · 2021Article
- The Coding and Small Non-coding Hippocampal Synaptic RNAome.Molecular neurobiology · 2021Article
- Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.The application of clinical genetics · 2021Review
- The influence of autistic symptoms on social and non-social cognition and on real-life functioning in people with schizophrenia: Evidence from the Italian Network for Research on Psychoses multicenter study.European psychiatry : the journal of the Association of European Psychiatrists · 2020Article
- FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability.Complex psychiatry · 2020Review
- Autistic symptoms predict social cognitive performance in patients with schizophrenia.Schizophrenia research · 2020Article
- EGFP insertional mutagenesis reveals multiple FXR2P fibrillar states with differing ribosome association in neurons.Biology open · 2019Article
- Comparative Behavioral Phenotypes ofBrain sciences · 2019Article
- Dysregulated CaFrontiers in synaptic neuroscience · 2019Review
- Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.Human genetics · 2018Article
- Regulation of Adult Neurogenesis by the Fragile X Family of RNA Binding Proteins.Brain plasticity (Amsterdam, Netherlands) · 2018Review
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of syndromic ASD. It is unknown, however, whether normal variants (independent of mutations) in the fragile X gene family (FMR1, FXR1, FXR2) and in FMR2 modulate autistic features. Here, we report an accumulation model of 8 SNPs in these genes, associated with autistic traits in a discovery sample of male patients with schizophrenia (N = 692) and three independent replicate samples: patients with schizophrenia (N = 626), patients with other psychiatric diagnoses (N = 111) and a general population sample (N = 2005). For first mechanistic insight, we contrasted microRNA expression in peripheral blood mononuclear cells of selected extreme group subjects with high- versus low-risk constellation regarding the accumulation model. Thereby, the brain-expressed miR-181 species emerged as potential "umbrella regulator", with several seed matches across the fragile X gene family and FMR2. To conclude, normal variation in these genes contributes to the continuum of autistic phenotypes.
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