|
rs61749721
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In addition, we also show that aminoglycosides increased the prevalence of full-length MeCP2 protein in a dose-dependent manner in a lymphocyte cell line derived from a Rett syndrome girl with the R255X mutation.
|
20623622 |
2010 |
|
rs61749721
|
|
|
0.720 |
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 |
|
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 |
|
rs61751362
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We differentiated three R29</span>4X iPSC lines and their isogenic wild type control iPSC into neurons with high efficiency and consistency, and observed characteristic RTT pathology in R294X neurons.
|
21966470 |
2011 |
|
rs61751362
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Clinicians need to be alerted to the variable presentation of Rett syndrome including the milder phenotypes of cases with the p.R133C or p.R294X mutation.
|
20815036 |
2010 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |