Rett syndrome and the MECP2 gene

Journal of Medical Genetics

Volumn 38, Issue 4, 2001, Pages 217-223

  Webb, T ^a   Latif, F ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME XQ; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; GENE ISOLATION; GENE MUTATION; GENETIC VARIABILITY; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; UNTRANSLATED REGION; X CHROMOSOME INACTIVATION;

EID: 0035054792     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.4.217     Document Type: Review

References (50)

1. Mother and daughter with Rett syndrome
2. Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls
3. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
4. Rett's syndrome: Characterisation of respiratory patterns and sleep
5. Rett syndrome: Clinical peculiarities, diagnostic approach, and possible cause
6. Rett variants - Rettoid phenotypes
7. Chromosome mapping of Rett syndrome: A likely candidate region on the telomere of Xq
8. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28
9. Rett syndrome: Confirmation of X-linked dominant inheritance, and localisation of the gene to Xq28
10. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
11. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
12. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
13. Mutation screening in Rett syndrome patients
14. Preserved speech variant is allelic of classic Rett syndrome
15. Rett syndrome: Analysis of MECP2 and clinical characterisation of 31 patients
16. MECP2 mutations account for most cases of typical forms of Rett syndrome
17. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome
18. Mutations in the MeCP2 gene in a cohort of girls with Rett syndrome
19. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome
20. Rett syndrome diagnosis testing by DHPLC and sequence analysis of the MeCP2 gene
21. Purification, sequence, and cellular localisation of a novel chromosomal protein that binds to methylated DNA
22. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
23. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
24. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
25. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
26. A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3′-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
27. Rett syndrome: A surprising result of mutation in MECP2
28. MeCp2 is a transcriptional repressor with abundant binding sites in genomic chromatin
29. DNA methylation specifies chromosomal localisation of MeCP2
30. Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated
31. The methyl-CpG-binding protein MeCP2 is essential for embryonic development in the mouse
32. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
33. Search for X-chromosomal microdeletions in Rett syndrome
34. A comparative study of X-inactivation in Rett syndrome probands and control subjects
35. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
36. Classical Rett syndrome, preserved speech variant and normal phenotype due to segregation of the same MECP2 mutation (1157del32) and different percentage of X-inactivation
37. Methyl-CpG binding protein 2 mutations in Rett syndrome
38. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
39. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
40. Two affected boys in a Rett syndrome family: Clinical and molecular findings
41. MECP2 mutation in male patients with non-specific X-linked mental retardation
42. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
43. MECP2 mutation in non-fatal, non progressive encephalopathy in a male
44. Effects of Rett syndrome mutations of the methyl CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
45. Functional consequences of Rett syndrome mutations on human MeCP2
46. High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
47. Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3
48. Chromatin modification and disease
49. Rett syndrome