Title of article :
A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Reportpathy: case report
Author/Authors :
Heidari ، Masoud Department of Animal Biology - Faculty of Natural Sciences - University of Tabriz , Soleyman-Nejad ، Morteza Ariagene Medical Genetics Laboratory , Taskhiri ، Mohammad Hossein Ariagene Medical Genetics Laboratory , Isazadeh ، Alireza Immunology Research Center - Tabriz University of Medical Sciences , Bolhassan ، Manzar Ariagene Medical Genetics Laboratory , Shahpouri ، Javad Pediatric Clinical Research of Development Center - Qom University of Medical Sciences , Heidari ، Mansour Ariagene Medical Genetics Laboratory , Sadighi ، Nahid Advanced Diagnostic and Interventional Radiology Research Center (ADIR) - Tehran University of Medical Sciences
Abstract :
The Syntaxin Binding Protein 1 (STXBP1) plays an important role in regulating neurotransmitter release and synaptic vesicle fusion through binding to syntaxin-1A (STX1A) and changing its conformation. In this study, we identified a de novo mutation (c.C1162T: p.R388X) in exon 14 of the STXBP1 gene causing an epileptic encephalopathy, early infantile, non-epileptic movement, and unclassified infantile spasms disorders in a 5-year-old boy by whole-exome sequencing. The segregation of this genetic variant was examined in the patient as well as in his parents. We found the R388X in heterozygous state in the proband but not in his parents. This genetic change could be due to de nova mutation or germlinemosaicism.
Keywords :
Syntaxin binding protein 1 (STXBP1) gene , Mutation , Epileptic encephalopathy
Journal title :
Acta Medica Iranica
