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Genetic Analysis of Mecp2 Gene in Iranian Patients With Rett Syndrome



Nasiri J1 ; Salehi M2 ; Hosseinzadeh M3 ; Zamani M3 ; Fattahpour S2 ; Aryani O4 ; Najafabadi EF2 ; Jabarzareh M2 ; Asadi S2 ; Gholamrezapour T2 ; Sedghi M2 ; Ghorbani F2
Authors
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Authors Affiliations
  1. 1. Department of Paediatric Neurology, Faculty of Medicine, Child Growth and Development Research CenterIsfahan, University of Medical Sciences, Isfahan, Iran
  2. 2. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Department of Medical Genetics, School of Medicine, International Campus, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Neuroscience, Iran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Child Neurology Published:2019

Abstract

Objectives Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in MECP2 gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome. Materials & Methods To provide further insights into the distribution of mutations in MECP2 gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017. We sequenced the entire MECP2 coding region and splice sites for detection of point mutations in this gene. Freely available programs including JALVIEW, SIFT, and PolyPhen were used to find out the damaging effects of unknown mutations. Results Direct sequencing revealed MECP2 mutations in 13 of the 24 patients. We identified in 13 patients, 10 different mutations in MECP2 gene. Three of these mutations have not been reported elsewhere and are most likely pathogenic. Conclusion Defects in MECP2 gene play an important role in pathogenesis of Rett syndrome. Mutations in MECP2 gene can be found in the majority of Iranian RTT patients. We failed to identify mutations in MECP2 gene in 46% of our patients. For these patients, further molecular analysis might be necessary. © 2019, Iranian Child Neurology Society. All rights reserved.