|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course.
|
19133691 |
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 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
|
rs28934906
|
|
|
0.900 |
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 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
|
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 |
UNIPROT |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
|
11055898 |
2000 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (<i>MECP2<sup>T158M/T158M</sup></i> ), hESC line expressing no MECP2 (<i>MECP2-KO</i>), congenic pair of wild-type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction).
|
28270572 |
2017 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
|
rs28934906
|
|
|
0.900 |
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 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
|
12966522 |
2003 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].
|
11402105 |
2001 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Together, these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate RTT-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach.
|
28394263 |
2017 |