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Article

Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.

Mutation research - 1 Jun 2012

Todorov Tihomir, Todorova Albena, Motoescu Cristina, Dimova Petia, Iancu Daniela, Craiu Dana, Stoian Daniela, Barbarii Ligia, Bojinova Veneta, Mitev Vanyo

Abstract excerpt

Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are associated with Rett syndrome (RTT). The MECP2 gene has some unique characteristics: (1) it is mainly affected by de novo mutations, due to recurrent independent mutational events in a defined "hot spot" regions or positions; (2) complex mutational events along a single allele are frequently found in this gene; (3) most mutations arise on paternal X...

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Source

Identifiers

PMID: 22525432
DOI: 10.1016/j.mrfmmm.2012.04.001

Genes

MECP2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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