Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause.
|
16337617 |
2006 |
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 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A total of 321 patients with nonspecific MR were screened for the FMR1 and FMR2 mutation.
|
10850542 |
2000 |
Intellectual Disability
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The fragile X syndrome (FRAXA) is the most widespread heritable form of mental retardation caused by the lack of expression of the fragile X mental retardation protein (FMRP).
|
18616611 |
2008 |
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 |
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 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS).
|
30759772 |
2019 |
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 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Loss of fragile X mental retardation protein (FMRP) causes synaptic dysfunction and intellectual disability.
|
24062571 |
2013 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In fragile X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) gene promoter results in its epigenetic silencing.
|
24578575 |
2014 |
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 |
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 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Absence of the FMR1 protein results in mental retardation.
|
12136110 |
2002 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS), caused by silencing of the Fmr1 gene, is the most common form of inherited mental retardation.
|
18832330 |
2009 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males.
|
9132500 |
1997 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of autism.
|
30137253 |
2019 |
Intellectual Disability
|
0.400 |
PosttranslationalModification
|
group |
BEFREE |
Hypermethylation of the FMR1 promoter reduces its transcriptional activity, resulting in the mental retardation and macroorchidism characteristic of Fragile X syndrome.
|
11058604 |
2001 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the FMR1 gene.
|
7942992 |
1994 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
In patients with fragile X syndrome, the expanded CGG triplet repeats are hypermethylated and the expression of the FMR1 gene is repressed, which leads to the absence of FMR1 protein (FMRP) and subsequent mental retardation.
|
10767313 |
2000 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1.
|
29325626 |
2018 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
FRAXA coincides with a >200 CGG*CCG repeat tract in the 5' UTR of the FMR1 gene, and alleles prone to fragility are associated with Fragile X (FX) syndrome, one of the leading genetic causes of intellectual disability.
|
19465392 |
2009 |
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 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Overall, 16p11.2 CNV was associated with altered expression of genes and networks that converge on multiple hypotheses of ASD pathogenesis, including synaptic function (e.g., NRXN1, NRXN3), chromatin modification (e.g., CHD8, EHMT1, MECP2), transcriptional regulation (e.g., TCF4, SATB2), and intellectual disability (e.g., FMR1, CEP290).
|
24906019 |
2014 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome, the second most common genetic cause of mental retardation, is due to the expansion of a trinucleotide repeat (CGG)n within the first exon of the FMR-1 gene.
|
18712171 |
2008 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this study, 977 genetically unrelated individuals from families unselected for mental retardation or fragile X were analyzed with Southern blot analysis for the presence of FMR1 mutations.
|
8012350 |
1994 |