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Article

MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.

Journal of molecular neuroscience : MN - 29 May 2026

Booalizadeh Parnoush, Salahshourifar Iman, Rabbani Bahareh, Rezvani Morteza, Ashrafi Mahmoud Reza, Mahdieh Nejat

Abstract excerpt

Background rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder primarily affecting females, predominantly caused by pathogenic variants in the MECP2 gene. This study investigates the genetic and phenotypic spectrum of RTT in Iran, a population characterized by high genetic diversity and consanguinity. Methods twenty-five Iranian RTT patients (24 females, 1 male; aged 2-17 years), including 11...

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Source

Identifiers

PMID: 42213295
DOI: 10.1007/s12031-026-02545-6

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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