Variant: rs61750240 

    present in Gene: MECP2
    present in Chromosome: X
    Position on Chromosome: 154031020
    Alleles of this Variant: G/A;C

rs61750240 in MECP2 gene and Dysmorphic features PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

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 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

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

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

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

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

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

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

PMID 17351020 2007 MECP2 mutations in males.

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

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

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

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

rs61750240 in MECP2 gene and ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS PMID 10854091 2000 Preserved speech variant is allelic of classic Rett syndrome.

PMID 23238081 2013 MeCP2 deficiency is associated with impaired microtubule stability.

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

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

PMID 18174548 2007 Rett syndrome: North American database.

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

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

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

rs61750240 in MECP2 gene and Movement Disorders PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

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

PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

PMID 17351020 2007 MECP2 mutations in males.

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

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

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

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

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

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

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

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

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

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

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

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

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

rs61750240 in MECP2 gene and Muscle hypotonia PMID 24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

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

PMID 17351020 2007 MECP2 mutations in males.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs61750240 in MECP2 gene and Rett Syndrome PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

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

PMID 16077729 2005 Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome.

PMID 11524741 2001 Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

PMID 21764336 2011 Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.

PMID 20625242 2010 R270X is one of the most frequent recurrent MECP2 mutations among RTT cohorts.

PMID 26175308 2016 Functional outcomes in Rett syndrome.

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

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 27255190 2016 Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.

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

PMID 11896459 2002 We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X.

PMID 10814718 2000 Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

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

PMID 23810759 2013 MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

PMID 23452848 2013 An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.

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

PMID 17914728 2007 A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X).

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

PMID 23238081 2013 MeCP2 deficiency is associated with impaired microtubule stability.

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