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[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].

No to hattatsu = Brain and development - 1 May 2002

Kondo Ikuko, Yamagata Hidehisa

Abstract excerpt

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder characterized by regression in cognition and adaptability with autistic behavior, stereotypical hand movements, epilepsy and ataxia. Over 120 different mutations in the methyl-CpG binding protein 2 gene (MECP2) have been reported in patients with RTT, but a genotype-phenotype correlation has not been established. We have studied MECP2...

Topics

Chromosomal Proteins, Non-Histone
DNA-Binding Proteins
Female
Genotype
Humans
Male
Methyl-CpG-Binding Protein 2
Mutation
Phenotype
Repressor Proteins
Rett Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12030010

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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