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Article

MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2012

Tang Shan S, Fernandez Daphin, Lazarou Lazarus P, Singh Rahul, Fallon Penny

Abstract excerpt

Male patients with large duplications of the methyl CpG-binding protein 2 (MECP2) gene have been identified with a characteristic phenotype consisting of infantile hypotonia replaced by spasticity, developmental delay, severe mental retardation and recurrent respiratory infections. Only one patient with MECP2 triplication, with a more severe phenotype has been reported so far. We report three brothers of...

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Source

Identifiers

PMID: 21821449
DOI: 10.1016/j.ejpn.2011.07.011

Genes

MECP2

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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