×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2 .10508514 1999
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2 .10508514 1999
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
MECP2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical Rett syndrome had an MECP2 mutation, 94 of 162 (58%) with atypical Rett syndrome had a mutation, and all 21 individuals diagnosed as Not Rett syndrome had a mutation.18174548 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.
11738879 2001
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
11214906 2001
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.
19309269 2009
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos.
14536082 2003
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
11885030 2002
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
A Rett syndrome MECP2 mutation that causes mental retardation in men.
11805248 2002
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
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
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Abnormal movements in Rett syndrome are present before the regression period: a case study.
17914728 2007
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation.
20142466 2010
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
24328834 2014
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.
23452848 2013
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
21160487 2011
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.
18334558 2008
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.
22497713 2012
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.
19217433 2009
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
20661168 2010
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Brief report: systematic review of Rett syndrome in males.
26254891 2015
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
25541993 2014
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Chronic osteomyelitis in patients with sickle cell disease.
10944834 2000
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
CLINVAR
Clinical profile of a male with Rett syndrome.
16182490 2005
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
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
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Rett Syndrome
1.000
CausalMutation
CLINVAR
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.
17142618 2006