|
rs28934904
|
|
|
0.880 |
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 |
|
rs28935468
|
|
|
0.870 |
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 |
Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome.
|
18174559 |
2007 |
|
rs61748404
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.
|
23859859 |
2013 |
|
rs267608454
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Therefore, we decided to characterize a novel MeCP2 phospho-isoform (Tyr-120) whose relevance was suggested by a Rett syndrome patient carrying a Y120D substitution possibly mimicking a constitutively phosphorylated state.
|
25527496 |
2015 |
|
rs61751457
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient.
|
21940684 |
2012 |
|
rs61752361
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient.
|
21940684 |
2012 |
|
rs267608563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient.
|
21940684 |
2012 |
|
rs28934904
|
|
|
0.880 |
GeneticVariation |
BEFREE |
The results are in agreement with previous experimental studies and further provide atomic level understanding of the molecular origin of RTT associated with R133C variant.
|
26064184 |
2015 |
|
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 |
|
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 |
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
|
26936630 |
2016 |
|
rs267608597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first one, the double nucleotide substitution c.1162_1163delinsTA leading to a premature stop codon (p.Pro388X) was found in a female patient with random X-inactivation, presenting with borderline mental impairment without any features of Rett syndrome.
|
17383248 |
2007 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A).
|
22119903 |
2011 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lower doses of this vector significantly extended the survival of mice lacking MeCP2 or expressing a mutant T158M allele but had no impact on RTT-like neurological phenotypes.
|
28497075 |
2017 |
|
rs61748381
|
|
|
0.010 |
GeneticVariation |
BEFREE |
L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies.
|
16672765 |
2006 |
|
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 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the cohort of Angelman-negative patients (N=63), two missense mutations (p.R133C in a female patient and a mosaic p.T158M in a male patient) were found, which have been reported many times in patients with classical RTT syndrome.
|
14560307 |
2004 |
|
rs28934904
|
|
|
0.880 |
GeneticVariation |
BEFREE |
In the cohort of Angelman-negative patients (N=63), two missense mutations (p.R133C in a female patient and a mosaic p.T158M in a male patient) were found, which have been reported many times in patients with classical RTT syndrome.
|
14560307 |
2004 |
|
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 |