Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

Journal of Human Genetics

Volumn 45, Issue 4, 2000, Pages 231-236

  Amano, Kenji ^a   Nomura, Yoshiko ^b   Segawa, Masaya ^b   Yamakawa, Kazuhiro ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b Segawa Neurological Clinic for Children   (Japan)

Author keywords

MECP2 gene; Mental retardation; Methyl CpG binding protein; Mutation; Rett syndrome; X chromosome dominant

Indexed keywords

BINDING PROTEIN; DNA; NUCLEOTIDE;

ALLELE; ARTICLE; CHROMOSOME MAP; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; JAPAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETT SYNDROME;

EID: 0033913202     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070032     Document Type: Article

References (8)

1. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188
2. Hagberg B (1995) Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr 84:971-976
3. Jones PL, Veenstra GJC, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19:187-191
4. Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393:386-389
5. Segawa M, Takano M, Shimohira M, Tanaka R, Hachimori K, Nomura Y (1998) Locomotion in late infancy and development of higher cortical function at later ages. In: Perat MV (ed) New developments in child neurology. Monduzzi Editore, International Proceedings Division, Bologna, pp 27-30
6. Sirianni N, Naidu S, Pereira J, Pillotto RF, Hoffman EP (1998) Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 63:1552-1558
7. Wan M, Lee SSJ, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JLP, Lo IFM, Zoghbi HY, Schanen NC, Francke U (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 65:1520-1529
8. Xiang F, Zhang Z, Clarke A, Joseluiz P, Sakkubai N, Sarojini B, Delozier-Blanchet CD, Hansmann I, Edstrom L, Anvret M (1998) Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. J Med Genet 35:297-300