Author/Authors :
Nasiri, Jafar Department of Paediatric Neurology - Faculty of Medicine - Child Growth and Development Research Center - Isfahan University of Medical Sciences , Salehi, Mansoor Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Hosseinzadeh, Majid Department of Medical Genetics - School of Medicine - International Campus -Tehran University of Medical Sciences, Tehran , Zamani, Mahdi Department of Medical Genetics - School of Medicine - International Campus -Tehran University of Medical Sciences, Tehran , Fattahpour, Shirin Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Aryani, Omid Department of Neuroscience - Iran University of Medical Sciences, Tehran , Fazel Najafabadi, Esmat Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Jabarzareh, Maryam Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Asadi, Sara Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Gholamrezapour, Tahereh Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Sedghi, Maryam Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Ghorbani, Fatemeh Medical Genetics Laboratory - Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan
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.
Keywords :
Rett syndrome , MECP2 mutation , Direct sequencing , Iran
