Variant: rs28934906 

    present in Gene: MECP2
    present in Chromosome: X
    Position on Chromosome: 154031355
    Alleles of this Variant: G/A

rs28934906 in MECP2 gene and Cerebral Palsy PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.

PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

rs28934906 in MECP2 gene and Developmental delay (disorder) PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.

PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.

PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

rs28934906 in MECP2 gene and ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS PMID 12843318 2003 Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PMID 10852707 2000 Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA.

PMID 23270700 2013 Pubertal trajectory in females with Rett syndrome: a population-based study.

PMID 11738866 2001 Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems.

PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 21831886 2011 MeCP2 Rett mutations affect large scale chromatin organization.

PMID 26647311 2016 The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.

rs28934906 in MECP2 gene and Intellectual Disability PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.

PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

rs28934906 in MECP2 gene and Muscle hypotonia PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.

PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

PMID 17351020 2007 MECP2 mutations in males.

PMID 17267601 2007 Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

PMID 27354166 2016 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

PMID 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 11227330 2001 Epilepsy in a representative series of Rett syndrome.

PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PMID 12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 15558314 2005 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

PMID 16169931 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

PMID 8177735 1993 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

rs28934906 in MECP2 gene and Rett Syndrome PMID 11055898 2000 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

PMID 10814719 2000 MECP2 mutations account for most cases of typical forms of Rett syndrome.

PMID 10745042 2000 Mutation screening in Rett syndrome patients.

PMID 18174548 2007 Rett syndrome: North American database.

PMID 10767337 2000 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

PMID 11283202 2001 Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

PMID 11402105 2001 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)].

PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.

PMID 10944854 2000 Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PMID 11706982 2001 Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.

PMID 12567420 2003 Mutation analysis of the MECP2 gene in patients with Rett syndrome.

PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

PMID 12966523 2003 Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 21160487 2011 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

PMID 11738883 2001 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

PMID 12872250 2003 Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

PMID 28348241 2017 Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.

PMID 11376998 2001 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

PMID 11269512 2001 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

PMID 11241840 2001 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

PMID 22277191 2012 Molecular diagnostic dilemmas in Rett syndrome.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

PMID 16183801 2006 Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

PMID 21420494 2011 MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.

PMID 12966522 2003 Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 17296936 2007 Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

PMID 10991688 2000 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.

PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

PMID 16473305 2006 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 19573459 2009 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.

PMID 10991689 2000 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

PMID 19442733 2009 Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.

PMID 20661168 2010 Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.

PMID 19217433 2009 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.

PMID 18989701 2009 A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

PMID 19133691 2009 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.

PMID 20116947 2011 Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

PMID 20631224 2010 Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.

PMID 20231667 2010 Epilepsy and the natural history of Rett syndrome.

PMID 19552836 2009 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.

PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.

PMID 19309269 2009 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.

PMID 18499664 2008 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.

rs28934906 in MECP2 gene and Seizures PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.

PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.