The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 8, Issue 2, 2002, Pages 94-98

  Hammer, Sara ^a,b   Dorrani, Naghmeh ^a,b   Dragich, Joanna ^b   Kudo, Shinichi ^c   Schanen, Carolyn ^a,b,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HOKKAIDO INSTITUTE OF PUBLIC HEALTH   (Japan)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Angelman; MECP2; Rett syndrome; X linked mental retardation

Indexed keywords

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

ARTICLE; AUTISM; BRAIN DISEASE; DISEASE COURSE; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPPY PUPPET SYNDROME; HUMAN; KLINEFELTER SYNDROME; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SEX DIFFERENCE; X CHROMOSOME INACTIVATION;

ANGELMAN SYNDROME; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; REPRESSOR PROTEINS; RETT SYNDROME; X CHROMOSOME;

EID: 0036270836     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/mrdd.10023     Document Type: Article

References (34)

1. The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
3. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
4. MECP2 mutations account for most cases of typical forms of Rett syndrome
5. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
6. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease sev erity with mutation type and location
7. X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies
8. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
9. Is classical Rett syndrome ever present in males?
10. MECP2 is highly mutated in X-linked mental retardation
11. Comment on Rett syndrome and genetic drift
12. DNA recognition by the methyl-CpG binding domain of MeCP2
13. X-linked mental retardation
14. Nonspecific X-linked mental retardation II: The frequency in British Columbia
15. MeCP2 mutations in children with and without the phenotype of Rett syndrome
16. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
17. Male Rett syndrome variant: Application of diagnostic criteria
18. Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems
19. Occurrence of Rett syndrome in males
20. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
21. Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1
22. MECP2 mutation in male patients with non-specific X-linked mental retardation
23. The Rett syndrome in males
24. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
25. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
26. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
27. Rett phenotype in patient with XXY karyotype: Case report
28. Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28
29. Two affected boys in a rett syndrome family: Clinical and molecular findings
30. Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: Analysis of 31 cases
31. The solution structure of the domain from MeCP2 that binds to methylated DNA
32. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hot-spots
33. A comparative study of X-inactivation in Rett syndrome probands and control subjects
34. Patterns of X chromosome inactivation in the Rett syndrome