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Article

A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

Human genetics - 1 Jan 2009

Adegbola Abidemi A, Gonzales Michael L, Chess Andrew, LaSalle Janine M, Cox Gerald F

Abstract excerpt

The MECP2 gene on Xq28 encodes a transcriptional repressor, which binds to and modulates expression of active genes. Mutations in MECP2 cause classic or preserved speech variant Rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males. T...

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

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Share to Methyl-CpG-Binding Protein 2

Share to Mutation, Missense

Share to Point Mutation

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Source

Identifiers

PMID: 18989701
DOI: 10.1007/s00439-008-0585-6

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18989701-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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