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Article

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Annals of neurology - 1 Dec 2009

Ramocki Melissa B, Peters Sarika U, Tavyev Y Jane, Zhang Feng, Carvalho Claudia M B, Schaaf Christian P, Richman Ronald, Fang Ping, Glaze Daniel G, Lupski James R, Zoghbi Huda Y

Abstract excerpt

OBJECTIVE: There have been no objective assessments to determine whether boys with MECP2 duplication have autism or whether female carriers manifest phenotypes. This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females. METHODS: Eight families (9 m...

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Share to Autistic Disorder
Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interleukin-1 Receptor-Associated Kinases

Share to Methyl-CpG-Binding Protein 2

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Source

Open in PubMed Open full text

Identifiers

PMID: 20035514
DOI: 10.1002/ana.21715
PMCID: PMC2801873

Genes

MECP2
IRAK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20035514-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.PMID 20035514Read ↗

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 ↗

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.Semantic proximity Read ↗

MECP2 duplication syndrome in both genders.Semantic proximity Read ↗

Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.Semantic proximity Read ↗

MECP2 duplication: possible cause of severe phenotype in females.Semantic proximity Read ↗

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

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

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.Semantic proximity Read ↗

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.Semantic proximity Read ↗

MECP2 duplication syndrome in a patient from Cameroon.Semantic proximity Read ↗

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.Semantic proximity Read ↗

Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.Semantic proximity Read ↗

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