Genetic basis of Rett syndrome

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 8, Issue 2, 2002, Pages 82-86

  Van Den Veyver, Ignatia B ^a   Zoghbi, Huda Y ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

MECP2; Mutations; Rett syndrome; X linked inheritance

Indexed keywords

DNA BINDING PROTEIN; GENE PRODUCT; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DEVELOPMENT; CARBOXY TERMINAL SEQUENCE; CHROMOSOME MAP; CORRELATION ANALYSIS; CPG ISLAND; FAMILIAL DISEASE; FEMALE; GENE MAPPING; GENE MUTATION; GENE REPRESSION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RETT SYNDROME; TRANSCRIPTION REGULATION; X CHROMOSOMAL INHERITANCE; X CHROMOSOME INACTIVATION;

CHROMOSOMAL PROTEINS, NON-HISTONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; LINKAGE (GENETICS); METHYL-CPG-BINDING PROTEIN 2; PHENOTYPE; REPRESSOR PROTEINS; RETT SYNDROME; X CHROMOSOME;

EID: 0036277105     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/mrdd.10025     Document Type: Article

References (72)

1. The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse
2. Rett syndrome: A search for gene sources
3. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
4. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
5. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
6. Rett syndrome: Random X chromosome inactivation
7. Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations
8. Rett syndrome: Exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations
9. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
10. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
11. MECP2 mutations account for most cases of typical forms of Rett syndrome
12. Gene number, noise reduction and biological complexity
13. A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
14. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
15. X inactivation in Rett syndrome: A preliminary study showing partial preferential inactivation of paternal X with the M27 beta probe
16. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
17. Longread sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
18. 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
19. X chromosome linkage studies in familial Rett syndrome
20. Preserved speech variant is allelic of classic Rett syndrome
21. Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
22. Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis
23. Mother and daughter with Rett syndrome
24. Cytosine methylation transforms an E2F site in the retinoblastoma gene promoter into a binding site for the general repressor methylcytosine-binding protein 2 (MeCP2)
25. Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls
26. Rett syndrome: Epidemiology and geographical variability
27. The phenotypic consequence of MECP2 mutations extend beyond Rett syndrome
28. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
29. MeCP2 mutations in children with and without the phenotype of Rett syndrome
30. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
31. MECP2 mutation in non-fatal, nonprogressive encephalopathy in a male
32. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
33. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
34. MeCP2 driven transcriptional repression in vitro: Selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery
35. Alterations in replication timing of X-chromosome bands in Rett syndrome
36. X chromosome-inactivation patterns in patients with Rett syndrome
37. Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated
38. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
39. MECP2 gene nucleotide changes and their pathogenecity in males. Proceed with caution
40. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
41. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
42. In search of a genetic basis for the Rett syndrome
43. Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome
44. Rett syndrome-observational study of 33 families
45. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
46. DNA methylation specifies chromosomal localization of MeCP2
47. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
48. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
49. DHPLC analysis of the MECP2 gene in Italian Rett patients
50. High frequency of MECP2 mutations in Danish patients with Rett syndrome
51. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome
52. MECP2 mutation in male patients with non-specific X-linked mental retardation
53. Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions
54. A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome
55. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
56. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
57. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
58. Balanced X chromosome inactivation patterns in the Rett syndrome brain
59. Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28
60. High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
61. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
62. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
63. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: Implications for the disease
64. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
65. Rett syndrome and the MECP2 gene
66. Neither uniparental disomy nor skewed X-reactivation explains Rett syndrome
67. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28
68. Mutation screening in Rett syndrome patients
69. Histone deacetylase-independent transcriptional repression by methyl-CpG-binding protein 2
70. Functional consequences of Rett syndrome mutations on human MeCP2
71. Genetic aspects of Rett syndrome
72. Patterns of X chromosome inactivation in the Rett syndrome