Author/Authors :
Karimzadeh, Parvaneh Pediatric Neurology Research Center - Research Institute for Children’s Health - Shahid Beheshti University of Medical Sciences, Tehran - Pediatric Neurology Department - Mofid Children’s Hospital - Faculty of Medicine - Shahid Beheshti University of Medical Sciences, Tehran , Kheirollahi, Majid Department of Medical Genetics - Pediatric Inherited Diseases Research Center - Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan , Houshmand, Massoud Department of Genetics and Molecular Biology - School of Medicine - Isfahan University of Medical Sciences, Isfahan , Dadgar, Sepideh Department of Medical Genetic Medical Center and Faculty - Member of NIGEB, Tehran , Aryani, Omid Department of Genetics and Molecular Biology - School of Medicine - Isfahan University of Medical Sciences, Isfahan , Yaghini, Omid Pediatric Neurology - Child growth and Development research center - Research Institute for Primordial Prevention of Noncommunicable Disease of Medical Genetic - Isfahan University of Medical Sciences
Abstract :
Objectives
Rett syndrome is characterized by normal development for the first
6-18 months of life followed by the loss of fine and gross motor
skills and the ability to engage in social interaction. In most patients,
mutations are found in methyl CpG-binding protein 2 (MECP2) gene.
We investigated the relation between Rett clinical diagnosis and
mutations in MECP2.
Materials & Methods
Children suspected of Rett syndrome were invited to participate in this
study. Twenty-three patients from the Mofid Hospital, Tehran, Iran
suffered from classic Rett syndrome diagnostic criteria were enrolled
in 2012. The severity of symptoms was assessed for all of them.
The peripheral blood samples were collected in EDTA tubes and the
genomic DNA was extracted using standard salting out method. The
mutation of MEPC2 gene was studied using DNA sequencing method.
Results
Overall, 11(47.8%) patients had MECP2 gene mutation, while 12
cases (52.2%) had no mutations. Changes in genetics were associated
with phenotypical manifestations. The most prevalent mutation was
p.v288 mainly associated with partially or uncontrolled seizures.
Conclusion
For the first time, we studies the Rett syndrome in terms of clinical
manifestations and genetic changes in Iran.
Keywords :
Rett Syndrome , MECP2 , Genetics , Iran
