|
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 |
|
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 |
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 |
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 |
|
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 |
|
rs61748404
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.
|
23859859 |
2013 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs61751364
|
|
|
0.770 |
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 |
|
rs61751364
|
|
|
0.770 |
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 |
|
rs61751364
|
|
|
0.770 |
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 |
|
rs61751364
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome.
|
18174559 |
2007 |
|
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 |
|
rs61750240
|
|
|
0.760 |
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 |
|
rs61750240
|
|
|
0.760 |
GeneticVariation |
BEFREE |
A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X).
|
17914728 |
2007 |
|
rs61750240
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome.
|
16077729 |
2005 |
|
rs61750240
|
|
|
0.760 |
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 |
|
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 |
|
rs61750240
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X).
|
11738872 |
2001 |
|
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 |
In those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6-point increase in severity score for those who were heterozygous for the BDNF polymorphism, both unadjusted (p = 0.02) and adjusted for age (p = 0.03).
|
19349604 |
2009 |
|
rs61748421
|
|
|
0.740 |
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 |
|
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 |