MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Consequently, we have searched for MECP2 mutations in 294 patients (43 Angelman and Prader-Willi like included) with mental retardation (MR) of unknown aetiology. 16879196 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group BEFREE The finding of a significant number of copy number polymorphisms in the genome in the normal population, means that assigning pathogenicity to deletions and duplications in patients with mental retardation can be difficult but has been identified for duplications of MECP2 and L1CAM. 16987873 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group LHGDN We conclude that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males. 17084570 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE We conclude that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males. 17084570 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group BEFREE Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. 17088400 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Sequence variants within exon 1 of MECP2 occur in females with mental retardation. 17171659 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group LHGDN Sequence variants within exon 1 of MECP2 occur in females with mental retardation. 17171659 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group LHGDN We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation. 17296936 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group BEFREE We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation. 17296936 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group LHGDN Mutations of the MECP2 (methyl-CpG-binding protein) gene mainly cause Rett syndrome but were also shown to be involved in mental retardation. 17383248 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. 17383248 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Rett syndrome, the most common form of mental retardation in young girls, is due to l mutation of MECP2, encoding a methylated DNA binding protein that translates DNA methylation into gene repression. 17965627 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. 18165974 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Furthermore, duplication of the MECP2 genomic region results in mental retardation with speech and social problems. 18321864 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male. 18678449 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation. 18688080 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. 18985075 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Mutations in MECP2 cause classic or preserved speech variant Rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males. 18989701 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group BEFREE Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes". 19160128 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group BEFREE We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. 19189931 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Rett syndrome (RS), a progressive severe neurodevelopmental disorder mainly caused by de novo mutations in the X-chromosomal MeCP2 gene encoding the transcriptional regulator methyl-CpG-binding protein 2, is a leading cause of mental retardation with autistic features in females. 19464363 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE These findings corroborate other recent reports in the literature and highlight that the overexpression of MECP2 caused by duplications involving this gene is a relatively frequent genetic cause of mental retardation in males, highlighting the importance of MECP2 gene dosage for diagnostic purposes in such cases. 19806472 2010