MECP2 gene mutation analysis in Chinese patients with Rett syndrome

European Journal of Human Genetics

Volumn 10, Issue 8, 2002, Pages 484-486

  Pan, Hong ^a   Wang, Yan Ping ^b,c   Bao, Xing Hua ^a   Meng, Hong Di ^a   Zhang, Yan ^b,c   Wu, Xi Ru ^a   Shen, Yan ^b,c  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^c CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

MECP2 gene; Mutation; Rett syndrome

Indexed keywords

DNA BINDING PROTEIN; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG; MECP2 PROTEIN, HUMAN; NONHISTONE PROTEIN; REPRESSOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CHINA; CLINICAL ARTICLE; CONTROLLED STUDY; CPG ISLAND; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC ENGINEERING; GENETIC VARIABILITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETT SYNDROME; SEX RATIO; X CHROMOSOME LINKAGE; AMINO ACID SUBSTITUTION; ASIAN; FRAMESHIFT MUTATION; GENETICS; MUTATION; PEDIGREE; SEXUAL DEVELOPMENT;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHINA; CPG ISLANDS; DNA-BINDING PROTEINS; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMAN; MALE; MONGOLOID RACE; MUTATION; PEDIGREE; REPRESSOR PROTEINS; RETT SYNDROME; SEX CHARACTERISTICS; SUPPORT, NON-U.S. GOV'T; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMAL PROTEINS, NON-HISTONE; HUMANS; METHYL-CPG-BINDING PROTEIN 2;

EID: 0035991629     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200827     Document Type: Article

References (6)

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methly-CpG-binding protein 2
2. Transcriptional repression by the methyl CpG-binding protein MeCP2 involves a histone deacetylase complex
3. The Rett Syndrome Diagnostic Criteria Work Group: Diagnostic criteria for Rett syndrome
4. A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
5. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
6. MECP2 is highly mutated in X-linked mental retardation