MECP2 is highly mutated in X-linked mental retardation

Human Molecular Genetics

Volumn 10, Issue 9, 2001, Pages 941-946

  Couvert, Philippe ^a   Bienvenu, Thierry ^a   Aquaviva, Cecile ^a   Poirier, Karine ^a   Moraine, Claude ^b   Gendrot, Chantal ^b   Verloes, Alain ^c   Andrès, Christian ^b   Le Fevre, Anne Celine ^a   Souville, Isabelle ^a   Steffann, Julie ^a   Des Portes, Vincent ^a   Ropers, Hans Hilger ^d   Yntema, Helger G ^e   Fryns, Jean Pierre ^f   Briault, Sylvain ^b   Chelly, Jamel ^a   Cherif, Beldjord ^a  

^a CHU Cochin ^*  (France)

^b CHU BRETONNEAU   (France)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DNA BINDING PROTEIN; GUANINE; TRINUCLEOTIDE;

ARTICLE; CHROMOSOME XQ; COHORT ANALYSIS; CONTROLLED STUDY; CPG ISLAND; FAMILY; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; X CHROMOSOME LINKAGE;

EID: 0035870846     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.9.941     Document Type: Article

References (29)

1. Purification, sequence and cellular localisation of a novel chromosomal protein that binds to methylated DNA
2. A complex pattern of evolutionary conservation and alternative poly-adenylation within the long 3′-untranslated region of the methyl-CpG-binding protein 2 gene (MECP2) suggests a regulatory role in gene expression
3. Dissection of the methyl-CpG-binding domain from the chromosome protein MeCP2
4. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacethylase complex
5. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
6. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
7. MECP2 mutations account for most cases of typical forms of Rett syndrome
8. Rett syndrome and beyond: Recurrent spontaneous and familial MeCP2 mutations at CpG hotspots
9. Methyl-CpG-binding protein 2 mutations in Rett Syndrome
10. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
11. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
12. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
13. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
14. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
15. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in patients with Rett syndrome
16. Mutation screening in Rett syndrome patients
17. MECP2 mutation in male patients with non-specific X-linked mental retardation
18. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
19. X-linked non specific mental retardation (MRX 16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family
20. Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
21. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
22. Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Collaborative fragile X study group
23. Prevalence of fragile X syndrome
24. XLMR genes: Update 1996
25. Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
26. MRX review
27. X-linked non-specific mental retardation
28. Genes for cognitive function: Developments on the X
29. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation