|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The spectrum of MECP2 mutations within the mainland Chinese RTT patients is similar to that of those patients reported in the world. p.T158M, p.R168X, c.806delG, p.R255X, p.R270X, p.R133C, p.R306C, and p.R106W are the hotspot mutations of MECP2 and c.806delG is a specific hotspot mutation in Chinese patients with RTT.
|
19552836 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
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
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
|
10991688 |
2000 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
|
12872250 |
2003 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
|
21420494 |
2011 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
|
15057977 |
2004 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.
|
18499664 |
2008 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome: North American database.
|
18174548 |
2007 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.
|
19573459 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
|
11738883 |
2001 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
|
19442733 |
2009 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
|
18989701 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
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 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |