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Article

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Gene - 15 Feb 2013

Das Dhanjit Kumar, Raha Sarbani, Sanghavi Daksha, Maitra Anurupa, Udani Vrajesh

Abstract excerpt

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, primarily affecting females and characterized by developmental regression, epilepsy, stereotypical hand movements, and motor abnormalities. Its prevalence is about 1 in 10,000 female births. Rett syndrome is caused by mutations within methyl CpG-binding protein 2 (MECP2) gene. Over 270 individual nucleotide changes which cause pathogenic mutations...

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Source

Identifiers

PMID: 23262346
DOI: 10.1016/j.gene.2012.11.024

Genes

MECP2
CDKL5
FOXG1

Variants

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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