|
rs28934906
|
|
Rett Syndrome
|
|
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
|
|
Rett Syndrome
|
A |
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 |
|
rs28934906
|
|
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 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
|
18989701 |
2009 |
|
rs28934906
|
|
Rett Syndrome
|
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
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
|
21160487 |
2011 |
|
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
|
11283202 |
2001 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
|
20661168 |
2010 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
|
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
|
11706982 |
2001 |
|
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
|
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons.
|
28920956 |
2017 |
|
rs28934906
|
|
Rett Syndrome
|
|
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
|
|
Rett Syndrome
|
A |
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 |
|
rs28934906
|
|
Rett Syndrome
|
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
|
|
Rett Syndrome
|
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
|
|
Rett Syndrome
|
|
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
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
rs28934906
|
|
Rett Syndrome
|
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
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
|
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |