MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.200 Biomarker disease BEFREE The two males and the two obligate carrier females presented a mutation in the MECP2 gene, demonstrating that, in males, MECP2 can be responsible for severe mental retardation associated with neurological disorders. 10986043 2000
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.200 GeneticVariation group BEFREE Recent data indicate that the clinical phenotypes for MECP2 mutations range from mild disability in the mother of a girl with RS to rapidly progressive encephalopathy in her brother. 11106281 2000
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.190 GeneticVariation phenotype BEFREE A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 10986043 2000
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.140 GeneticVariation disease BEFREE We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation. 11007980 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Three human RecQ DNA helicases, WRN, BLM and RTS, are involved in the genetic disorders associated with genomic instability and a high incidence of cancer. 11032027 2000
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE The two males and the two obligate carrier females presented a mutation in the MECP2 gene, demonstrating that, in males, MECP2 can be responsible for severe mental retardation associated with neurological disorders. 10986043 2000
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE The unmitigated impact of mutant MECP2 can be inferred from the few males who have been born into RTT kindreds with such severe neonatal encephalopathy that they did not survive their second year. 11180222 2000
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 GeneticVariation disease BEFREE These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation. 11007980 2000
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE Three human RecQ DNA helicases, WRN, BLM and RTS, are involved in the genetic disorders associated with genomic instability and a high incidence of cancer. 11032027 2000
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. 10805343 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE With the recent identification of MECP2 mutations in Rett syndrome it is quite likely that genetic factors not only play a major role in brain development but may also influence other organ growth including bone formation. 11738859 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE About 80% of classic Rett syndrome is caused by mutations in the gene for methyl-CpG-binding protein (MeCP2) in Xq28. 11738862 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed. 11571704 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two males) and in seven families with two or more affected females. 11738860 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE 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)]. 11402105 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X). 11738872 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. 11464249 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease BEFREE Now MeCP2 is the focus of research into the neuropathology of Rett syndrome. 11738845 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls. 11738883 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Partial preservation of object-oriented hand use (OOHU) was studied behaviorally in a 6-1/2-year-old girl with the preserved speech variant (PSV) of Rett syndrome (RS), associated with a T 158 missense MeCP2 mutation and favorably skewed X-inactivation. 11332781 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease BEFREE 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 BEFREE To test this hypothesis, we have analysed 19 families with RTT syndrome due to MECP2 molecular defects. 11313764 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Herein we report one propositus with five tandem deletions and a second propositus with three tandem deletions within MECP2 exon 4 that encode truncated protein products resulting in classic Rett syndrome. 11453972 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE We analyzed the MECP2 gene in three sporadic Japanese patients with Rett syndrome. 11738863 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease BEFREE 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