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Article

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

Genetic testing and molecular biomarkers - 1 Feb 2009

Fendri-Kriaa Nourhène, Abdelkafi Zaineb, Rebeh Imen Ben, Kamoun Fatma, Triki Chahnez, Fakhfakh Faiza

Abstract excerpt

Patients with classical Rett show an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they enter a short period of developmental stagnation followed by a rapid regression in language and motor development. Purposeful hand use is often lost and replaced by repetitive, stereotypic movements. Rett syndrome (RTT) is an X-linked dominant disorder caused frequently by...

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Source

Identifiers

PMID: 19309283
DOI: 10.1089/gtmb.2008.0076

Genes

MECP2
TRD

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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Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.Semantic proximity Read ↗

A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations.Semantic proximity Read ↗

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