|
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 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT.
|
15737703 |
2005 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).
|
23035069 |
2012 |
|
rs28934907
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism.
|
20098342 |
2010 |
|
rs28934907
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons.
|
28920956 |
2017 |
|
rs28934907
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.
|
18499664 |
2008 |
|
rs28934907
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length.
|
19217433 |
2009 |
|
rs28934908
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The 8 hotspot mutations and the A140V mutation were also studied in 4 cohorts of Chinese children (n = 144) actively followed up in our university neurodevelopmental center with classic Rett syndrome (n = 5), autism spectrum disorder (n = 94), epileptic encephalopathy of unknown cause (n = 22), and nonsyndromal mental retardation (n = 23).
|
18174559 |
2007 |
|
rs28935468
|
|
|
0.870 |
GeneticVariation |
BEFREE |
RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term.
|
19133691 |
2009 |
|
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 |
|
rs28935468
|
|
|
0.870 |
GeneticVariation |
BEFREE |
In knock-in mice bearing the common human RTT missense mutation R306C, neuronal activity fails to induce MeCP2 T308 phosphorylation, suggesting that the loss of T308 phosphorylation might contribute to RTT.
|
23770587 |
2013 |
|
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 |
|
rs28935468
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome.
|
18174559 |
2007 |
|
rs28935468
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients.
|
19309269 |
2009 |
|
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 |
|
rs61748381
|
|
|
0.010 |
GeneticVariation |
BEFREE |
L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies.
|
16672765 |
2006 |
|
rs61748383
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
|
15875198 |
2006 |
|
rs61748389
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The change R133H was identified in a 13-year-old boy showing a classic RTT phenotype and normal karyotype.
|
11738885 |
2001 |
|
rs61748389
|
|
|
0.720 |
GeneticVariation |
BEFREE |
An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.
|
30569584 |
2019 |
|
rs61748390
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome.
|
12661945 |
2003 |
|
rs61748395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation (p.Y141C) lies within the methyl-binding domain, and has only been reported once in another atypical RTT.
|
16879196 |
2006 |
|
rs61748404
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.
|
23859859 |
2013 |
|
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 |
|
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 |
|
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 |