|
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 |
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 |
|
rs61749720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism.
|
20098342 |
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 |
|
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 |
|
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 |
|
rs61749738
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free.
|
27062609 |
2017 |
|
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 |
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 |
|
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 |
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 |
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 |
|
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 |
|
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 |
|
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 |
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 |
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 |
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 |
Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome.
|
18174559 |
2007 |
|
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 |
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 |
|
rs61751367
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
|
26936630 |
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 |