MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: Rett Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CLINGEN Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation.A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male. 11283202 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CLINGEN Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons. 17289941 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Rett Syndrome (RTT) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene. 19190538 2009
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human RTT is caused by loss of function mutations in the gene that encodes methyl-CpG-binding protein 2 (Mecp2) (Amir et al., 1999), a transcriptional repressor that targets genes essential for neuronal survival, dendritic growth, synaptogenesis, and activity dependent plasticity. 21316312 2011
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Rett syndrome is an X-linked ASD caused by mutations in the epigenetic factor methyl-CpG binding protein 2 (MECP2). 22343140 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human MeCP2-deficient mice recapitulate the neurological degeneration observed in RTT patients. 22532851 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. 15034579 2004
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. 23892605 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families. 10745042 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. 11706982 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively. 11055898 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT From these results, it is suggested that the clinical phenotype of RTT is variable and it is important to investigate the MECP2 genotype for patients having more than five criteria and not only in those who exhibit all RTT diagnostic criteria. 11376998 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 29618507 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CLINGEN Here we explore the spectrum of mutations affecting the MECP2 gene in a group of 25 classic Rett syndrome girls and in three patients with the preserved speech variant. 10854091 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CLINGEN Here we show that Mecp2-deficient mice exhibit phenotypes that resemble some of the symptoms of RTT patients. 11242118 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. 12161600 2002
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. 19921286 2010
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420 2003