|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Molecular diagnostic dilemmas in Rett syndrome.
|
22277191 |
2012 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
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 |
|
Rett Syndrome
|
|
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 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
|
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 |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
|
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 |
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 |
|
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 |
CausalMutation
|
CLINVAR |
Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
|
20631224 |
2010 |
|
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 |
CausalMutation
|
CLINVAR |
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 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |
|
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 |
CausalMutation
|
CLINVAR |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
|
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 spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
|
11241840 |
2001 |
|
Rett Syndrome
|
|
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 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
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 |
|
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
|
21420494 |
2011 |