Condition: Rett Syndrome


rs1060499620 in MECP2 gene and Rett Syndrome PMID 23696494 2013 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

PMID 21878110 2011 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

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 15173251 2004 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

PMID 17142618 2006 Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

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 15737703 2005 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 11402105 2001 MeCP2 mutations in children with and without the phenotype of Rett syndrome.

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

PMID 26254891 2015 Brief report: systematic review of Rett syndrome in males.

PMID 24508304 2014 Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

PMID 20142466 2010 Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation.

PMID 23262346 2013 Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

PMID 11960578 2001 Mutation analysis in Rett syndrome.

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

PMID 27929079 2016 From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

PMID 15526954 2004 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

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

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

PMID 26175308 2016 Functional outcomes in Rett syndrome.

PMID 10577905 1999 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

PMID 11462237 2001 DHPLC analysis of the MECP2 gene in Italian Rett patients.

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

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

PMID 12746406 2003 Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

PMID 11309679 2001 MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

PMID 18174548 2007 Rett syndrome: North American database.

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

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

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

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 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 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 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 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.

PMID 10852707 2000 Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome.

PMID 20098342 2010 Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism.

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

PMID 17387578 2007 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

PMID 14598336 2003 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

PMID 11885030 2002 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

PMID 27465203 2016 Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

PMID 11805248 2002 A Rett syndrome MECP2 mutation that causes mental retardation in men.

PMID 24328834 2014 Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

PMID 23770565 2013 Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.

PMID 24916645 2015 GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

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

PMID 21372149 2011 Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.

PMID 11214906 2001 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

PMID 20093853 2010 MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro.

PMID 12418965 2002 Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.

PMID 16182490 2005 Clinical profile of a male with Rett syndrome.

PMID 2460487 1988 Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate.

PMID 11313756 2001 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.

PMID 12180070 2002 Spectrum of MECP2 mutations in Rett syndrome.

PMID 18989701 2009 We show that a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome and another Rett syndrome-causing mutation, such that protein-heterochromatin binding observed by immunofluorescence and immunoblotting is wild-type > P152A > P152R > T158 M, consistent with the severity of the observed phenotype.

PMID 18842453 2008 Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.

PMID 10805343 2000 Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.

PMID 18021529 2007 [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].

PMID 19652677 2009 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.

PMID 12075485 2002 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.

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

PMID 21982064 2012 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

PMID 24626160 2014 Here we characterized respiration in heterozygous females from two mouse models that genetically mimic common RTT point mutations, a missense mutation T158A (Mecp2(T158A/)(+)) or a nonsense mutation R168X (Mecp2(R168X/+)).

PMID 21695138 2011 We performed comparative study of suppression effects of the novel NB54 and gentamicin on three MECP2 nonsense mutations (R294X, R270X and R168X) common in RTT, using ex vivo treatment of primary fibroblasts from RTT patients harboring these mutations and testing for the C-terminal containing full-length MeCP2.

PMID 25541993 2014 We have generated a knockin mouse model for translational research that carries the most common nonsense mutation in Rett syndrome, R168X.

PMID 24511209 2014 Here, we investigated plasma acute phase response (APR) in stage II (i.e., "pseudo-autistic") RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions).

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

PMID 18652533 2008 Multiple de novo mutations in the MECP2 gene.

PMID 12872251 2003 Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.

PMID 14536082 2003 A truncated form of MeCP2 (R168X) found in patients with Rett syndrome cannot interact with the SMRT complex or fully activate xHairy2a during primary neurogenesis.

PMID 16629931 2006 People with MECP2 mutation-positive Rett disorder who converse.

PMID 12746405 2003 Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

PMID 11331619 2001 To study the effects of two common truncating RTT mutations (R168X and 803delG), we examined mutant MeCP2 expression and global histone acetylation levels in clonal cell cultures from a female RTT patient with the mutant R168X allele on the active X chromosome, as well as in cells from a male hemizygous for the frameshift mutation 803delG (V288X).

PMID 11283201 2001 Rett syndrome and the MECP2 gene.

PMID 11738860 2001 Spectrum of MECP2 mutations in Rett syndrome.

PMID 11313764 2001 Parental origin of de novo MECP2 mutations in Rett syndrome.

PMID 18334558 2008 Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.

PMID 11738879 2001 A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.

PMID 11469283 2001 MECP2 mutation screening in Swedish classical Rett syndrome females.

PMID 16077729 2005 p.R270X MECP2 mutation and mortality in Rett syndrome.

PMID 11007980 2000 MECP2 mutation in male patients with non-specific X-linked mental retardation.

PMID 12325033 2002 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.

PMID 18332345 2008 Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

PMID 11055848 2000 Reduction of mortality in specific-pathogen-free layer chickens by a caprine serum fraction after infection with Pasteurella multocida.

PMID 1402105 1992 [Limulus test (factor G) and polysaccharides from fungus].

PMID 17986102 2007 MECP2 mutations in Serbian Rett syndrome patients.

PMID 11913564 2002 Rett syndrome: clinical manifestations in males with MECP2 mutations.

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

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

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

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

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

PMID 15557528 2004 Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

PMID 19552836 2009 [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].

PMID 22497713 2012 Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.

PMID 16376510 2006 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.

PMID 12770674 2003 Identification of MeCP2 mutations in a series of females with autistic disorder.

PMID 1105898 1975 [Comparative and experimental studies on various prosthesis cleaners. 1. Testing of mechanical cleans power and the action on prosthesis materials].

PMID 11245712 2001 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

PMID 26936630 2016 The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

PMID 17084570 2007 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.

PMID 22525432 2012 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.

PMID 19914908 2010 Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

PMID 19371229 2009 Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.