Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs28934906
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

dbSNP: rs28934906
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

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE Lower doses of this vector significantly extended the survival of mice lacking MeCP2 or expressing a mutant T158M allele but had no impact on RTT-like neurological phenotypes. 28497075

2017

dbSNP: rs28934906
rs28934906
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

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. 26647311

2016

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Molecular diagnostic dilemmas in Rett syndrome. 22277191

2012

dbSNP: rs28934906
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

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487

2011

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation. 21420494

2011

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. 20116947

2011

dbSNP: rs28934906
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

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010

dbSNP: rs28934906
rs28934906
A 0.900 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. 20661168

2010

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. 20631224

2010

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Epilepsy and the natural history of Rett syndrome. 20231667

2010

dbSNP: rs28934906
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

dbSNP: rs28934906
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

dbSNP: rs28934906
rs28934906
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

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. 18989701

2009

dbSNP: rs28934906
rs28934906
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

dbSNP: rs28934906
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