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Article

MECP2 duplication: possible cause of severe phenotype in females.

American journal of medical genetics. Part A - 1 Apr 2014

Scott Schwoerer Jessica, Laffin Jennifer, Haun Joanne, Raca Gordana, Friez Michael J, Giampietro Philip F

Abstract excerpt

MECP2 duplication syndrome, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic-like features, spasticity, along with a variety of additional features that are not always clinically apparent. The syndrome is due to a duplication (or triplication) of the gene methyl CpG binding protein 2 (MECP2). To...

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Identifiers

PMID: 24458799
DOI: 10.1002/ajmg.a.36380

Genes

MECP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

MECP2 duplication: possible cause of severe phenotype in females.PMID 24458799Read ↗

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MECP2 duplication syndrome in both genders.Semantic proximity Read ↗

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.Semantic proximity Read ↗

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.Semantic proximity Read ↗

Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.Semantic proximity Read ↗

Genetic analysis of a pedigree with MECP2 duplication syndrome in ChinaSemantic proximity Read ↗

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of MECP2 duplication syndrome].Semantic proximity Read ↗

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.Semantic proximity Read ↗

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.Semantic proximity Read ↗

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.Semantic proximity Read ↗

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