|
rs61748383
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
|
15875198 |
2006 |
|
rs179363900
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We show that a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome and another Rett syndrome-causing mutation, such that protein-heterochromatin binding observed by immunofluorescence and immunoblotting is wild-type > P152A > P152R > T158 M, consistent with the severity of the observed phenotype.
|
18989701 |
2009 |
|
rs61748421
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We performed comparative study of suppression effects of the novel NB54 and gentamicin on three MECP2 nonsense mutations (R294X, R270X and R168X) common in RTT, using ex vivo treatment of primary fibroblasts from RTT patients harboring these mutations and testing for the C-terminal containing full-length MeCP2.
|
21695138 |
2011 |
|
rs61750240
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X.
|
11896459 |
2002 |
|
rs267608591
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient.
|
26755454 |
2016 |
|
rs267608595
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient.
|
26755454 |
2016 |
|
rs782460882
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient.
|
26755454 |
2016 |
|
rs63390262
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient.
|
26755454 |
2016 |
|
rs61749735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found six polymorphisms (three novel, three previously reported) in 10 patients, one novel unclassified silent change (p.V222V) in a man, and one causative mutation in a girl with MR. Once this case was clinically reviewed, the girl presented symptoms of atypical RTT.
|
16879196 |
2006 |
|
rs61748411
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We found a causal role for T158A mutation in the development of RTT-like phenotypes, including developmental regression, motor dysfunction, and learning and memory deficits.
|
22119903 |
2011 |
|
rs28935468
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice.
|
26647311 |
2016 |
|
rs61751364
|
|
|
0.770 |
GeneticVariation |
BEFREE |
We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice.
|
26647311 |
2016 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice.
|
26647311 |
2016 |
|
rs28934904
|
|
|
0.880 |
GeneticVariation |
BEFREE |
We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice.
|
26647311 |
2016 |
|
rs61751444
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We also detected the c.925C >T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown.
|
21160487 |
2011 |
|
rs61751362
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV).
|
15737703 |
2005 |
|
rs28935468
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV).
|
15737703 |
2005 |
|
rs61751364
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV).
|
15737703 |
2005 |
|
rs28934904
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV).
|
15737703 |
2005 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Together, these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate RTT-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach.
|
28394263 |
2017 |
|
rs61748421
|
|
|
0.740 |
GeneticVariation |
BEFREE |
To study the effects of two common truncating RTT mutations (R168X and 803delG), we examined mutant MeCP2 expression and global histone acetylation levels in clonal cell cultures from a female RTT patient with the mutant R168X allele on the active X chromosome, as well as in cells from a male hemizygous for the frameshift mutation 803delG (V288X).
|
11331619 |
2001 |
|
rs28935468
|
|
|
0.870 |
GeneticVariation |
BEFREE |
To model RTT in vitro, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of two RTT patients with different mutations (MECP2 (R306C) and MECP2 (1155Δ32)) in their MECP2 gene.
|
27379379 |
2016 |
|
rs61751364
|
|
|
0.770 |
GeneticVariation |
BEFREE |
To model RTT in vitro, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of two RTT patients with different mutations (MECP2 (R306C) and MECP2 (1155Δ32)) in their MECP2 gene.
|
27379379 |
2016 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (<i>MECP2<sup>T158M/T158M</sup></i> ), hESC line expressing no MECP2 (<i>MECP2-KO</i>), congenic pair of wild-type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction).
|
28270572 |
2017 |
|
rs28934905
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome.
|
10852707 |
2000 |