A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

American Journal of Human Genetics

Volumn 67, Issue 4, 2000, Pages 982-985

  Meloni, Ilaria ^a   Bruttini, Mirella ^a   Longo, Ilaria ^a   Mari, Francesca ^a   Rizzolio, Flavio ^c   D’adamo, Patrizia ^c   Denvriendt, Koenraad ^b   Fryns, Jean Pierre ^b   Toniolo, Daniela ^c   Renieri, Alessandra ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME XQ; FEMALE; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; RETT SYNDROME; SPASTICITY;

EID: 0033804436     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303078     Document Type: Article

References (16)

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
4. MECP2 mutations account for most cases of typical forms of Rett syndrome
5. A novel X-linked gene, G4.5, is responsible for Barth syndrome
6. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
7. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
8. X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies
9. Preserved speech variant is allelic of classic Rett syndrome
10. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
11. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
12. Human brain factor 1, a new member of the fork head gene family
13. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
14. Methyl-CpG-binding protein 2 mutations in Rett syndrome
15. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
16. Mutation screening in Rett syndrome patients