MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 AlteredExpression disease BEFREE The need for tightly controlled MeCP2 levels in brain is strongly suggested by neurologically abnormal phenotypes of mouse models with mild overexpression and by mental retardation in human males with MECP2 duplication. 16613900 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease 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: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease 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: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE Rett syndrome, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2), is a leading cause of mental retardation with autistic features in females. 16647848 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. 17088400 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE The aim of this study was to analyze well-characterized cases with MR and to clarify the role of the MECP2 gene in the etiology of MR and atypical Angelman syndrome. 15578581 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE Rett syndrome (RTT), the second most common cause of mental retardation in females, has been associated with mutations in MeCP2, the archetypical member of the methyl-CpG binding domain (MBD) family of proteins. 15549394 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE The phenotypic spectrum of MECP2 mutations is broad and includes mental retardation with or without seizures, Angelman syndrome-like phenotype, and autism. 16225828 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype. 16080119 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE We consider essential proceeding further screening in the whole extension of the MECP2 gene using clinically well-documented and larger sized sample to assure the overall contribution of MECP2 to mental retardation. 15814190 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE MECP2 gene mutations responsible for Rett syndrome have also been found in male patients with mental retardation, sometimes associated with different neurologic abnormalities. 15704871 2004
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE In this study, the question was addressed as to whether implementation of systematic screening of MECP2 in patients with an unexplained mental retardation in DNA diagnostics would be reasonable, and the spectrum of phenotypes resulting from mutations in this gene was further explored. 14560307 2004
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE Most male patients with MeCP2 mutations exhibit moderate to severe developmental delay/mental retardation. 12555243 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE Recently, mutations in the MECP2 gene were reported in males with non-specific mental retardation suggesting that defects in MECP2 could be responsible for up to 2% of X-linked mental retardation. 14529314 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE Numerous recent reports have proposed that mutations in the C-terminal domain of the MECP2 gene could be a frequent cause of mental retardation in males. 11896461 2002
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. 11805248 2002
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE This case, as well as other published studies of males with MECP2 mutations, reveals that the clinical manifestations in viable males vary from neonates with severe encephalopathy to adults with mental retardation and demonstrate genotype-phenotype correlations. 11913564 2002
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE To date, descriptions have been published of two patients with independent familial mental retardation (MR) and two patients with sporadic MR who harbor this specific mutation in the MECP2 gene. 11885030 2002
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE Consistent with this notion is the recent demonstration that MECP2 mutations cause Rett syndrome (RTT, MIM 312750), a childhood neurological disorder that represents one of the most common causes of mental retardation in females. 11242118 2001
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 Biomarker disease BEFREE Therefore, implementation of systematic screening of MECP2 in MR patients should result in significant progress in the field of molecular diagnosis and genetic counseling of mental handicap. 11309367 2001
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 GeneticVariation disease BEFREE Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a neuro-developmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills that almost exclusively affects females. 10814718 2000
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 CausalMutation disease CLINVAR