FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). 27784894 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Women who develop primary ovarian insufficiency related to a premutation in FMR1 are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. 27827529 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Importantly, we validated that elevating neural network activity requires protein translation and is dependent on fragile X mental retardation protein (FMRP), the protein that is deficient in the most common inherited form of mental retardation and autism, fragile X syndrome (FXS). 29016848 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. 29144507 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo variant c.990+1G>A (family 2) and a maternally inherited c.420-8A>G variant (family 3). 28176767 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP). 28819289 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 AlteredExpression group BEFREE FMRP loss is phenocopied by conditional removal of FMRP only during this critical period, and rescued by FMRP conditional expression only during this critical period. 29375303 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Aberrant MMP activity is implicated in fragile X syndrome (FXS), a disease caused by the loss of the RNA-binding protein FMRP and characterized by neurological dysfunction and intellectual disability. 29114039 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Here we demonstrate the creation of a robust FMR1-Nluc reporter hiPSC line by knocking in a Nano luciferase (Nluc) gene into the endogenous human FMR1 gene using the CRISPR/Cas9 genome editing method. 27422057 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. 28640668 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Promoter methylation status of FMR1, mutations in its sequence and copy number variations (CNVs) in genes associated with intellectual disability were investigated. 27708271 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE This study reveals an unexpected new phenotype in a physical property of central neurons lacking FMRP that could underlie aspects of FXS disruption of neural function.<b>SIGNIFICANCE STATEMENT</b> FXS is a leading heritable cause of intellectual disability and autism spectrum disorders. 28887386 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS) is an inherited form of intellectual disability that is usually caused by expansion of a polymorphic CGG repeat in the 5' untranslated region of the X-linked FMR1 gene, which leads to hypermethylation and transcriptional silencing. 27643697 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X syndrome is the most common inherited form of intellectual disability and results from a loss of function of the translational repressor FMRP. 27273094 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing. 27768763 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE The absence of fragile X mental retardation 1 protein (FMRP) results in fragile X syndrome (FXS) that is a common cause of intellectual disability and a variant of autism spectrum disorder. 26709905 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form of heritable intellectual disability and autism. 28173181 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Fragile X syndrome (FXS) is a common inherited form of intellectual disability caused by the absence or reduction of the fragile X mental retardation protein (FMRP) encoded by the FMR1 gene. 27616423 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 PosttranslationalModification group BEFREE Epigenetic silencing of fragile X mental retardation 1 (FMR1) causes fragile X syndrome (FXS), a common inherited form of intellectual disability and autism. 27273096 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Loss of function of the FMR1 gene leads to fragile X syndrome (FXS), the most common form of intellectual disability. 25693964 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE Fragile X syndrome (FXS), the most common inherited intellectual disability syndrome, is caused by expansion and hypermethylation of the CGG repeat in the 5' UTR of the FMR1 gene. 25953684 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Cytoplasmic FMR1-interacting protein 1 (CYFIP1) is of particular interest because of its interaction with Fragile X mental retardation protein (FMRP), its upregulation in transformed lymphoblastoid cell lines from patients with duplications at 15q11-13 and ASD and the presence of smaller overlapping deletions of CYFIP1 in patients with schizophrenia and intellectual disability. 25311365 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 GeneticVariation group BEFREE We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of the CGG repeat in the FMR1 gene. 24428240 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE Silencing of fragile X mental retardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and autistic behaviors. 25432536 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group BEFREE As a result, the loss of FMRP impairs these signaling controls and eventually causes FXS-associated disorders, such as autism and mental retardation. 26663181 2015