|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
|
18989701 |
2009 |
|
Rett Syndrome
|
|
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 |
|
Rett Syndrome
|
|
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 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
|
Rett Syndrome
|
|
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 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Rett syndrome: North American database.
|
18174548 |
2007 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
Rett Syndrome
|
|
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 |
|
Rett Syndrome
|
|
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 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
|
15057977 |
2004 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
|
12966522 |
2003 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
|
12872250 |
2003 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
|
11738883 |
2001 |
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
|
11241840 |
2001 |