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Two novel mutations in the MECP2 gene in patients with Rett syndrome.

Gene - 30 Mar 2020

Khalili Alashti Shayan, Fallahi Jafar, Mohammadi Sanaz, Dehghanian Fatemeh, Farbood Zahra, Masoudi Marjan, Poorang Shiva, Jokar Arezoo, Fardaei Majid

Abstract excerpt

Rett syndrome (RTT) is an X-linked severe neurological disorder. Mutations in Methyl-CpG-Binding Protein2 (MECP2) gene are the main cause of RTT disease. In this study, we report the results of screening the MECP2 gene for mutations in 7 Iranian patients with RTT syndrome. MECP2 sequencing identified two novel mutations in the heterozygous state, a splice mutation, c.354G>T, p.Gly119Gly, resulting in a premature...

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Identifiers

PMID: 31958484
DOI: 10.1016/j.gene.2020.144337

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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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