MECP2 mutations account for most cases of typical forms of Rett syndrome

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases are sporadic, but several reports about familial recurrence support X-linked dominant inheritance wi...

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Bibliographic Details
Published in:Human molecular genetics 2000-05, Vol.9 (9), p.1377-1384
Main Authors: Bienvenu, T, Carrié, A, de Roux, N, Vinet, M C, Jonveaux, P, Couvert, P, Villard, L, Arzimanoglou, A, Beldjord, C, Fontes, M, Tardieu, M, Chelly, J
Format: Article
Language:English
Subjects:
Base Sequence
Chromosomal Proteins, Non-Histone
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Electrophoresis
Exons
Female
Frameshift Mutation
Gene Deletion
Genotype
Humans
Life Sciences
MECP2 gene
Methyl-CpG-Binding Protein 2
Models, Genetic
Molecular Sequence Data
Mutation
Neurons and Cognition
Phenotype
Polymerase Chain Reaction
Repressor Proteins
Rett syndrome
Rett Syndrome - genetics
Sequence Homology, Nucleic Acid
X Chromosome
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Summary:Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases are sporadic, but several reports about familial recurrence support X-linked dominant inheritance with male lethality. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/9.9.1377