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Article

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

Journal of medical genetics - 1 Mar 2001

Imessaoudene B, Bonnefont J P, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J

Abstract excerpt

To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with...

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Identifiers

PMID: 11238684
DOI: 10.1136/jmg.38.3.171
PMCID: PMC1734835

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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