Gene Information
methyl-CpG binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6990]
MECP2 variants are associated with 7 diseases including systemic lupus erythematosus and Rett syndrome and 5 others, with 165 documented clinical phenotypes.
The MECP2 gene is associated with 7 medical conditions, including:
systemic lupus erythematosus
MONDO:0007915
Rett syndrome
MONDO:0010726
atypical Rett syndrome
MONDO:0017746
severe neonatal-onset encephalopathy with microcephaly
MONDO:0010397
syndromic X-linked intellectual disability Lubs type
MONDO:0010283
X-linked intellectual disability-psychosis-macroorchidism syndrome
MONDO:0010235
non-syndromic X-linked intellectual disability
MONDO:0019181
Research has identified 165 phenotypic features associated with MECP2 variants:
Short neck
HP:0000470
Hypospadias
HP:0000047
Scoliosis
HP:0002650
Secondary microcephaly
HP:0005484
Dystonia
HP:0001332
Drooling
HP:0002307
Shuffling gait
HP:0002362
Recurrent respiratory infections
HP:0002205
Ataxia
HP:0001251
Spasticity
HP:0001257
Midface retrusion
HP:0011800
Stereotypical hand wringing
HP:0012171
Short stature
HP:0004322
Autistic behavior
HP:0000729
Global developmental delay
HP:0001263
ClinVar contains 10 variants associated with MECP2. Below are some notable variants:
NM_001110792.2(MECP2):c.467_472delinsCACTT (p.Lys156fs)
Likely pathogenicVCV004293742
Review: criteria provided, single submitter
NM_001110792.2(MECP2):c.281_284dup (p.Arg96fs)
Likely pathogenicVCV004293268
Review: criteria provided, single submitter
NM_001110792.2(MECP2):c.1135_1180del (p.His379fs)
Likely pathogenicVCV004292396
Review: criteria provided, single submitter
NM_001110792.2(MECP2):c.1122_1229delinsAAGAAGGAGCACCACCATCACCACCACTCAGAGT (p.Lys375fs)
Likely pathogenicVCV004291961
Review: criteria provided, single submitter
NM_001110792.2(MECP2):c.1053dup (p.Lys352Ter)
Likely pathogenicVCV004291855
Review: criteria provided, single submitter
There are 1,158 publications about MECP2 indexed in PubMed. Below are some recent papers:
Identifying a novel Mecp2-mediated epigenetic mechanism controlling Lonp1 in the hippocampus and its disruption by aging.
Llanquinao-Sandoval J, Cicali KA, Jara C
PMID: 41258406
•
2025 Nov 19
•
Sci Rep
Stress-induced brain extracellular vesicles ameliorate anxiety behavior.
Mizohata Y, Yoshioka Y, Koga M
PMID: 41258040
•
2025 Nov 18
•
Transl Psychiatry
Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.
Fadl-Elmula I, Abdel-Raheem SY, Khalid R
PMID: 41255665
•
2025 Dec 9
•
World J Clin Pediatr
Epigenetic blockade of SOD2 boosts mitochondria ROS and cytoskeleton remodeling in cardiac fibrosis.
Zhang YS, Liu ZY, Lin LC
PMID: 41252265
•
2025 Nov 18
•
Cardiovasc Res
Intergenerational influences of paternal combat-related trauma on offspring behavioral and brain function.
Yamakawa GR, Freeman J, Harris S
PMID: 41245390
•
2025 Nov
•
Neurobiol Stress
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Last updated: 11/20/2025