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Article

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

American journal of human genetics - 1 Dec 1999

Wan M, Lee S S, Zhang X, Houwink-Manville I, Song H R, Amir R E, Budden S, Naidu S, Pereira J L, Lo I F, Zoghbi H Y, Schanen N C, Francke U

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding methyl-CpG binding protein 2 (MeCP2), was recently discovered. Here we explore the spectrum of phenotypes resulting from MECP2 mutations. Both nonsense (R168X and R255X) and missense (R106W and R306C) mutations have been found, with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Dosage Compensation, Genetic

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Source

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Identifiers

PMID: 10577905
DOI: 10.1086/302690
PMCID: PMC1288362

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.PMID 10577905Read ↗

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