Two affected boys in a Rett syndrome family: Clinical and molecular findings

Neurology

Volumn 55, Issue 8, 2000, Pages 1188-1193

  Villard, Laurent ^a   Kpebe, A ^a   Cardoso, C ^a   Chelly, J ^b   Tardieu, M ^c   Fontes, M ^a  

^a TIMONE HOSPITAL   (France)

^b Institut Cochin   (France)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETT SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME INACTIVATION;

EID: 0034711147     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.8.1188     Document Type: Article

References (16)

1. Review of Rett syndrome
2. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG binding protein 2
4. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
5. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
6. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
7. Mutation screening in Rett syndrome patients
8. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
9. MECP2 mutations account for most cases of typical forms of Rett syndrome
10. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
11. Transcriptional repression by the methyl-CpG binding protein MeCP2 involves a histone deacetylase complex
12. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
13. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
14. The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
15. Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome
16. High male:Female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders