Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Methyl-CpG-binding protein 2

The MECP2 gene encodes a protein that is involved in epigenetic regulation. In particular it plays a role in methylation of CpG islets. Mutations lead to several -linked disorders such as dominant Rett syndrome and recessive mental retardation. Also participation in autism and hypomethylation syndrome is discussed.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Severe neonatal-onset encephalopathy with microcephaly
MECP2
X-linked syndromic mental retardation Lubs type
MECP2
X-linked syndromic mental retardation 13
MECP2
X-linked syndromic mental retardation Lubs type
MECP2
Rett syndrome
Atypical Rett syndrome
MECP2
MECP2
Rett syndrome variant with preserved speech
MECP2
Atypical Rett syndrome
MECP2
Rett syndrome variant with preserved speech
MECP2
X-linked susceptibility to autism 3
MECP2
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

1.

Kimura H et al. (2003) Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1.

external link
2.

Lam CW et al. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

external link
3.

Vourc'h P et al. (2001) No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

external link
4.

Carney RM et al. (2003) Identification of MeCP2 mutations in a series of females with autistic disorder.

external link
5.

Yu TW et al. (2013) Using whole-exome sequencing to identify inherited causes of autism.

external link
6.

Guerrini R et al. (1998) Cortical reflex myoclonus in Rett syndrome.

external link
7.

Wan M et al. (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

external link
8.

Villard L et al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings.

external link
9.

Hoffbuhr K et al. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome.

external link
10.

Geerdink N et al. (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

external link
11.

Moog U et al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

external link
12.

Leuzzi V et al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

external link
13.

None (2007) MECP2 mutations in males.

external link
14.

Claes S et al. (1997) X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.

external link
15.

Gendrot C et al. (1999) X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

external link
16.

Meloni I et al. (2000) A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

external link
17.

Orrico A et al. (2000) MECP2 mutation in male patients with non-specific X-linked mental retardation.

external link
18.

Couvert P et al. (2001) MECP2 is highly mutated in X-linked mental retardation.

external link
19.

Dotti MT et al. (2002) A Rett syndrome MECP2 mutation that causes mental retardation in men.

external link
20.

Yntema HG et al. (2002) In-frame deletion in MECP2 causes mild nonspecific mental retardation.

external link
21.

Klauck SM et al. (2002) A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

external link
22.

Winnepenninckx B et al. (2002) Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

external link
23.

Gomot M et al. (2003) MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

external link
24.

Collins AL et al. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

external link
25.

Meins M et al. (2005) Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

external link
26.

Van Esch H et al. (2005) Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

external link
27.

del Gaudio D et al. (2006) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

external link
28.

Carvalho CM et al. (2009) Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

external link
29.

Belligni EF et al. (2010) MECP2 duplication in a patient with congenital central hypoventilation.

external link
30.

None (1966) [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

external link
31.

Amir RE et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

external link
32.

De Bona C et al. (2000) Preserved speech variant is allelic of classic Rett syndrome.

external link
33.

Clayton-Smith J et al. (2000) Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

external link
34.

Imessaoudene B et al. (2001) MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

external link
35.

Watson P et al. (2001) Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

external link
36.

Topçu M et al. (2002) Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.

external link
37.

Shahbazian M et al. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

external link
38.

Heilstedt HA et al. (2002) Infantile hypotonia as a presentation of Rett syndrome.

external link
39.

Mount RH et al. (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.

external link
40.

Maiwald R et al. (2002) De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.

external link
41.

Weaving LS et al. (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

external link
42.

Hammer S et al. (2003) Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

external link
43.

Mnatzakanian GN et al. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

external link
44.

Schanen C et al. (2004) Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

external link
45.

Moretti P et al. (2005) Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

external link
46.

Ravn K et al. (2005) Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

external link
47.

Nuber UA et al. (2005) Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.

external link
48.

Jian L et al. (2005) p.R270X MECP2 mutation and mortality in Rett syndrome.

external link
49.

Archer HL et al. (2006) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

external link
50.

Robertson L et al. (2006) The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

external link
51.

Bartholdi D et al. (2006) Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

external link
52.

Deng V et al. (2007) FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

external link
53.

Renieri A et al. (2009) Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

external link
54.

Adegbola AA et al. (2009) A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

external link
55.

Saunders CJ et al. (2009) Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

external link
56.

Chao HT et al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

external link
57.

Muotri AR et al. (2010) L1 retrotransposition in neurons is modulated by MeCP2.

external link
58.

Derecki NC et al. (2012) Wild-type microglia arrest pathology in a mouse model of Rett syndrome.

external link
59.

Lewis JD et al. (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA.

external link
60.

Quaderi NA et al. (1994) Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome.

external link
61.

Nan X et al. (1993) Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

external link
62.

Nan X et al. (1996) DNA methylation specifies chromosomal localization of MeCP2.

external link
63.

Tate P et al. (1996) The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

external link
64.

Adler DA et al. (1995) The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse.

external link
65.

D'Esposito M et al. (1996) Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

external link
66.

Vilain A et al. (1996) Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization.

external link
67.

Nan X et al. (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.

external link
68.

Jones PL et al. (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription.

external link
69.

Nan X et al. (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.

external link
70.

Willard HF et al. (1999) Breaking the silence in Rett syndrome.

external link
71.

Reichwald K et al. (2000) Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions.

external link
72.

Xiang F et al. (2000) Mutation screening in Rett syndrome patients.

external link
73.

Cheadle JP et al. (2000) Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

external link
74.

Huppke P et al. (2000) Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

external link
75.

Bienvenu T et al. (2000) MECP2 mutations account for most cases of typical forms of Rett syndrome.

external link
76.

Ballestar E et al. (2000) Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA.

external link
77.

Amano K et al. (2000) Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

external link
78.

Dragich J et al. (2000) Rett syndrome: a surprising result of mutation in MECP2.

external link
79.

Buyse IM et al. (2000) Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

external link
80.

Yusufzai TM et al. (2000) Functional consequences of Rett syndrome mutations on human MeCP2.

external link
81.

Bourdon V et al. (2001) A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

external link
82.

Guy J et al. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.

external link
83.

Chen RZ et al. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.

external link
84.

Trappe R et al. (2001) MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

external link
85.

Nielsen JB et al. (2001) MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.

external link
86.

Wan M et al. (2001) MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.

external link
87.

Ohki I et al. (2001) Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA.

external link
88.

Nicolao P et al. (2001) DHPLC analysis of the MECP2 gene in Italian Rett patients.

external link
89.

LaSalle JM et al. (2001) Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry.

external link
90.

Cohen D et al. (2002) MECP2 mutation in a boy with language disorder and schizophrenia.

external link
91.

Shahbazian MD et al. (2002) Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.

external link
92.

Kudo S et al. (2002) Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation.

external link
93.

Moncla A et al. (2002) Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

external link
94.

Kleefstra T et al. (2002) De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

external link
95.

Balmer D et al. (2002) MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

external link
96.

Pan H et al. (2002) MECP2 gene mutation analysis in Chinese patients with Rett syndrome.

external link
97.

Yntema HG et al. (2002) Low frequency of MECP2 mutations in mentally retarded males.

external link
98.

Laccone F et al. (2002) MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

external link
99.

Shahbazian MD et al. (2002) Balanced X chromosome inactivation patterns in the Rett syndrome brain.

external link
100.

Beyer KS et al. (2002) Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

external link
101.

Shahbazian MD et al. (2002) Rett syndrome and MeCP2: linking epigenetics and neuronal function.

external link
102.

Christodoulou J et al. (2003) RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution.

external link
103.

Georgel PT et al. (2003) Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation.

external link
104.

Miltenberger-Miltenyi G et al. (2003) Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

external link
105.

Kriaucionis S et al. (2003) DNA methylation and Rett syndrome.

external link
106.

Stancheva I et al. (2003) A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos.

external link
107.

Chen WG et al. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2.

external link
108.

Martinowich K et al. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation.

external link
109.

Young JI et al. (2004) X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

external link
110.

Braunschweig D et al. (2004) X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.

external link
111.

Matarazzo V et al. (2004) Temporal and regional differences in the olfactory proteome as a consequence of MeCP2 deficiency.

external link
112.

Ylisaukko-Oja T et al. (2005) MECP2 mutation analysis in patients with mental retardation.

external link
113.

Horike S et al. (2005) Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.

external link
114.

Samaco RC et al. (2005) Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

external link
115.

Thatcher KN et al. (2005) Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.

external link
116.

Harikrishnan KN et al. (2005) Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.

external link
117.

Makedonski K et al. (2005) MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.

external link
118.

Caballero IM et al. (2005) MeCP2 in neurons: closing in on the causes of Rett syndrome.

external link
119.

Watson CM et al. (2005) Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

external link
120.

Klose RJ et al. (2005) DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.

external link
121.

Saxena A et al. (2006) Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

external link
122.

Chang Q et al. (2006) The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

external link
123.

Ventura P et al. (2006) A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

external link
124.

Zhou Z et al. (2006) Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

external link
125.

Wang H et al. (2006) Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice.

external link
126.

Li MR et al. (2007) MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

external link
127.

McGill BE et al. (2006) Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome.

external link
128.

Guy J et al. (2007) Reversal of neurological defects in a mouse model of Rett syndrome.

external link
129.

Nan X et al. (2007) Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

external link
130.

Schüle B et al. (2007) DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.

external link
131.

Hardwick SA et al. (2007) Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

external link
132.

Samaco RC et al. (2008) A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.

external link
133.

Kerr B et al. (2008) Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.

external link
134.

Bebbington A et al. (2008) Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

external link
135.

Chahrour M et al. (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription.

external link
136.

Fyffe SL et al. (2008) Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.

external link
137.

Swanberg SE et al. (2009) Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.

external link
138.

Fichou Y et al. (2009) The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

external link
139.

Abuhatzira L et al. (2009) MeCP2 involvement in the regulation of neuronal alpha-tubulin production.

external link
140.

Tropea D et al. (2009) Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice.

external link
141.

Ben-Shachar S et al. (2009) Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

external link
142.

Freilinger M et al. (2009) MECP2 mutation in one of Rett's original patients.

external link
143.

Forlani G et al. (2010) The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

external link
144.

McGraw CM et al. (2011) Adult neural function requires MeCP2.

external link
145.

Carvalho CM et al. (2011) Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

external link
146.

Itoh M et al. (2012) Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development.

external link
147.

Ebert DH et al. (2013) Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

external link
148.

Buchovecky CM et al. (2013) A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.

external link
149.

Gabel HW et al. (2015) Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.

external link
150.

Orphanet article

Orphanet ID 123186 external link
151.

NCBI article

NCBI 4204 external link
152.

OMIM.ORG article

Omim 300005 external link
153.

Wikipedia article

Wikipedia EN (MECP2) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits