Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
BEFREE |
We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation.
|
15805463 |
2005 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
BEFREE |
We propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome.
|
18664458 |
2008 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
BEFREE |
However, a single missense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome.
|
15670167 |
2005 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
BEFREE |
To address these issues, we have generated a new Fragile X Syndrome mouse model in which the endogenous Fmr1 gene harbors the I304N mutation.
|
20011099 |
2009 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
BEFREE |
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association.
|
9659908 |
1997 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
BEFREE |
In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome.
|
24448548 |
2014 |
Liver diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
This patient harbors an isoleucine to asparagine mutation (I304N) in the second FMRP KH-type RNA-binding domain, however, this single case report was complicated because the patient harbored a superimposed familial liver disease.
|
20011099 |
2009 |
Fragile X Syndrome
|
|
0.860 |
CausalMutation
|
CLINVAR |
|
|
|
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
|
21540884 |
2011 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
UNIPROT |
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
|
25227148 |
2015 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
|
22797890 |
2012 |
Fragile X Syndrome
|
|
0.860 |
GeneticVariation
|
UNIPROT |
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
|
23765048 |
2013 |