rs267608475
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A single nucleotide deletion, at codon 137, that creates a L138X stop codon within the methyl-binding domain was found in an individual with features of RTT and incontinentia pigmenti.
|
10577905 |
1999 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs28934904
|
|
|
0.880 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
|
15875198 |
2006 |
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 |
rs28934904
|
|
|
0.880 |
GeneticVariation |
BEFREE |
A sister with R133C displayed classic RTT.
|
16122633 |
2005 |
rs61748381
|
|
|
0.010 |
GeneticVariation |
BEFREE |
L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies.
|
16672765 |
2006 |
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 |
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 |
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 |