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Article

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

Journal of child neurology - 1 Aug 2010

Fendri-Kriaa Nourhene, Mkaouar-Rebai Emna, Moalla Dorsaf, Belguith Neila, Louhichi Nacim, Zemni Ramzi, Slama Foued, Triki Chahnez, Fakhfakh Faiza

Abstract excerpt

Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical...

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Source

Identifiers

PMID: 20631224
DOI: 10.1177/0883073809356353

Genes

MECP2

Provenance

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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Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.PMID 20631224Read ↗

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