MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

Journal of Medical Genetics

Volumn 38, Issue 3, 2001, Pages 171-174

  Imessaoudene, B ^a,b   Bonnefont, J P ^a   Royer, G ^a   Cormier Daire, V ^a   Lyonnet, S ^a   Lyon, G ^a   Munnich, A ^a   Amiel, J ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CHU Mustapha   (Algeria)

Author keywords

Angelman syndrome; Encephalopathy; MECP2 gene; Rett syndrome

Indexed keywords

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

ARTICLE; CHILD; CLINICAL FEATURE; CPG ISLAND; DISEASE COURSE; FATALITY; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MALE; METHYLATION; MISSENSE MUTATION; NONSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; RETT SYNDROME;

EID: 0035078664     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.3.171     Document Type: Article

References (14)

1. Chromosome mapping of Rett syndrome: A likely candidate region on the telomere of Xq
2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
3. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
4. MECP2 mutations in Rett syndrome: Genotype and phenotype evaluation of 83 patients
5. The spectrum and parental origin of de novo mutations of MECP2 in Rett syndrome
6. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
7. Two affected males in a Rett family: Clinical and molecular findings
8. Angelman syndrome: A review of clinical and genetic aspects
9. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
10. Rett syndrome in a boy with a 47,XXY karyotype
11. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
12. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
13. MECP2 mutation in male patients with non-specific X-linked mental retardation
14. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA