Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

Abstract

Background: Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation. Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are the main criteria associated with this disorder. Sixty to ninety percent of the cases show MECP2 gene mutations, which reside on the X chromosome. MECP2 regulates gene expression in a repressive manner. The aim of this study is to estimate the incidence of MECP2 mutations in 32 female Egyptian patients clinically diagnosed with Rett syndrome, and to correlate their clinical features with MECP2 mutation status. Patients: 32 female Egyptian patients with a mean age of 36.9 months diagnosed clinically to suffer from Rett syndrome are the cohort of this study. Methods: Thorough clinical examination, MRI, EEG and testing for MECP2 gene mutations. Results: Twenty of the 32 (62.5%) patients showed MECP2 mutations an incidence which falls within that reported in the literature. Patients with MECP2 gene mutations presented with more severe clinical abnormalities. Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype. ª 2015 The Authors. Production and hosting by Elsevier B.V. on behalf of The Egyptian Pediatric Association. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/ licenses/by-nc-nd/4.0/).