Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Methyl-CpG-Bindungsprotein 2

Das MECP2-Gen kodiert ein Protein, welches in die epigentische Regulation insbesondere über die Methylierung der CpG-Inseln eingebunden ist. Mutationen führen zu x-chromosomal dominantem Rett-Syndrom oder zu rezessiver mentaler Retardierung. Weiterhin wird ein Zusammenhang mit Autismus und dem Hypomethylierungs-Syndrom diskutiert.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Neonatale Enzephalopathie mit Mikrozephalie
MECP2
X-chromosomale syndromale mentale Retardierung Lubs-Typ
MECP2
X-chromosomale syndromale mentale Retardierung 13
MECP2
X-chromosomale syndromale mentale Retardierung Lubs-Typ
MECP2
Rett-Syndrom
Atypisches Rett-Syndrom
MECP2
MECP2
Rett-Syndrom Variante mit erhaltener Sprechfähigkeit
MECP2
Atypisches Rett-Syndrom
MECP2
Rett-Syndrom Variante mit erhaltener Sprechfähigkeit
MECP2
X-chromosomale Veranlagung für Autismus
MECP2
Hypomethylierungs-Syndrom
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Rekurrente Blasenmole 1
NLRP7
Rekurrente Blasenmole 2
KHDC3L
ZFP57

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

None (2007) MECP2 mutations in males.

[^]
14.

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

[^]
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.

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
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.

[^]
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?

[^]
23.

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

[^]
24.

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

[^]
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.

[^]
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.

[^]
27.

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

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]
31.

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

[^]
32.

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

[^]
33.

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

[^]
34.

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

[^]
35.

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

[^]
36.

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

[^]
37.

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

[^]
38.

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

[^]
39.

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

[^]
40.

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

[^]
41.

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

[^]
42.

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

[^]
43.

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

[^]
44.

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

[^]
45.

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

[^]
46.

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

[^]
47.

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

[^]
48.

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

[^]
49.

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

[^]
50.

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

[^]
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.

[^]
52.

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

[^]
53.

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

[^]
54.

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

[^]
55.

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

[^]
56.

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

[^]
57.

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

[^]
58.

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

[^]
59.

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

[^]
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.

[^]
61.

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

[^]
62.

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

[^]
63.

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

[^]
64.

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

[^]
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.

[^]
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.

[^]
67.

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

[^]
68.

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

[^]
69.

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

[^]
70.

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

[^]
71.

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

[^]
72.

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

[^]
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.

[^]
74.

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

[^]
75.

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

[^]
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.

[^]
77.

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

[^]
78.

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

[^]
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.

[^]
80.

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

[^]
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.

[^]
82.

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

[^]
83.

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

[^]
84.

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

[^]
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.

[^]
86.

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

[^]
87.

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

[^]
88.

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

[^]
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.

[^]
90.

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

[^]
91.

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

[^]
92.

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

[^]
93.

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

[^]
94.

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

[^]
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.

[^]
96.

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

[^]
97.

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

[^]
98.

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

[^]
99.

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

[^]
100.

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

[^]
101.

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

[^]
102.

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

[^]
103.

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

[^]
104.

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

[^]
105.

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

[^]
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.

[^]
107.

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

[^]
108.

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

[^]
109.

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

[^]
110.

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

[^]
111.

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

[^]
112.

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

[^]
113.

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

[^]
114.

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

[^]
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.

[^]
116.

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

[^]
117.

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

[^]
118.

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

[^]
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.

[^]
120.

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

[^]
121.

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

[^]
122.

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

[^]
123.

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

[^]
124.

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

[^]
125.

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

[^]
126.

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

[^]
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.

[^]
128.

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

[^]
129.

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

[^]
130.

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

[^]
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.

[^]
132.

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

[^]
133.

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

[^]
134.

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

[^]
135.

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

[^]
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.

[^]
137.

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

[^]
138.

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

[^]
139.

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

[^]
140.

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

[^]
141.

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

[^]
142.

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

[^]
143.

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

[^]
144.

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

[^]
145.

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

[^]
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.

[^]
147.

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

[^]
148.

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

[^]
149.

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

[^]
150.

Orphanet article

Orphanet ID 123186 [^]
151.

NCBI article

NCBI 4204 [^]
152.

OMIM.ORG article

Omim 300005 [^]
Update: 29. April 2019