Evidence Detail for MECP2

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Basic Information Top
Gene Full Name: methyl CpG binding protein 2 (Rett syndrome)
Band: Xq28
Quick LinksEntrez ID:4204; OMIM: 300005; Uniprot ID:MECP2_HUMAN; ENSEMBL ID: ENSG00000169057
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 3 (6) 26 (7)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMRett syndrome (312750)
DescriptionMECP2 mutations or deletions cause Rett syndrome in females, and congenital encephalopathy or non-syndromic ID in males; MECP2 duplication syndrome, mostly in males
Reference(s)16418599; 12770674; 17286265; 12959422; 16980810; 12707946;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Lobo-Menendez, 2003_1 human ---AD genetics: mutation screen
  • Subjects: 99(41 female and 58 male)
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: No pathogenic mutations were observed in these patients. One patient had the C582T variant, previously reported in the unaffected father of an RS patient. Two other patients had single nucleotide polymorphisms in the 3' UTR of the gene, G1470A and C1516G. These variants were seen in 12/82 and 1/178 phenotypically normal male controls, respectively. The findings from this and other studies suggest that mutations in the coding sequence of the MeCP2 gene are not a significant etiological factor in autism.
Gong, 2008_1 human ---ASD X chromosome inactivation (XCI) screen
  • Subjects: 543 mothers and 163 affected girls
  • Normal Controls: 144 adult females and 40 young females
  • Methods: X chromosome inactivation (XCI) screen
  • Evidence Details: Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations.
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 167 X-linked synapic genes
Xi, 2011_1 human preipheral bloodautism genetics: mutation screen, CNV
  • Subjects: 82 male
  • Normal Controls: -
  • Methods: SSCP to search for mutation, Real-time Quantitative PCR to analyze the copy number
  • Evidence Details: No any mutation was found. No observed copy number variation in these samples
Campos, 2011_1 human bloodautism case report
  • Subjects: one Brazilian male
  • Normal Controls: -
  • Methods: real-time PCR
  • Evidence Details: Missense mutations in the MECP2 gene may play a role in the etiology of autism
Yasuda, 2011_1 human lymphoblastoid cellsASD mRNA expression level
  • Subjects: 35
  • Normal Controls: 35
  • Methods: RT-PCR
  • Evidence Details: No difference was found in the mRNA expression level of MECP2
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000727 X Xq28 gain 1 - CNVs Only Present In Patients; Bremer, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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