A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report
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 c...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2020-02-01
|
| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/8047 |
| _version_ | 1818640183770218496 |
|---|---|
| author | Masoud Heidari Morteza Soleyman-Nejad Mohammad Hossein Taskhiri Alireza Isazadeh Manzar Bolhassan Javad Shahpouri Mansour Heidari Nahid Sadighi |
| author_facet | Masoud Heidari Morteza Soleyman-Nejad Mohammad Hossein Taskhiri Alireza Isazadeh Manzar Bolhassan Javad Shahpouri Mansour Heidari Nahid Sadighi |
| author_sort | Masoud Heidari |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-16T23:07:14Z |
| format | Article |
| id | doaj.art-71b5cfa83ab847de819f95ebfcc8969c |
| institution | Directory Open Access Journal |
| issn | 0044-6025 1735-9694 |
| language | English |
| last_indexed | 2024-12-16T23:07:14Z |
| publishDate | 2020-02-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Acta Medica Iranica |
| spelling | doaj.art-71b5cfa83ab847de819f95ebfcc8969c2022-12-21T22:12:31ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942020-02-0157810.18502/acta.v57i8.24298047A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case ReportMasoud Heidari0Morteza Soleyman-Nejad1Mohammad Hossein Taskhiri2Alireza Isazadeh3Manzar Bolhassan4Javad Shahpouri5Mansour Heidari6Nahid Sadighi7Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.Ariagene Medical Genetics Laboratory, Qom, Iran.Ariagene Medical Genetics Laboratory, Qom, Iran. AND Department of Molecular Biology, Islamic Azad University of Qom, Qom, Iran.Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.Ariagene Medical Genetics Laboratory, Qom, Iran.Pediatric Clinical Research of Development Center, Qom University of Medical Sciences, Qom, Iran.Ariagene Medical Genetics Laboratory, Qom, Iran. AND Department of Molecular Biology, Islamic Azad University of Qom, Qom, Iran.Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran.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.https://acta.tums.ac.ir/index.php/acta/article/view/8047Syntaxin binding protein 1 (STXBP1) geneMutationEpileptic encephalopathy |
| spellingShingle | Masoud Heidari Morteza Soleyman-Nejad Mohammad Hossein Taskhiri Alireza Isazadeh Manzar Bolhassan Javad Shahpouri Mansour Heidari Nahid Sadighi A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report Acta Medica Iranica Syntaxin binding protein 1 (STXBP1) gene Mutation Epileptic encephalopathy |
| title | A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report |
| title_full | A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report |
| title_fullStr | A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report |
| title_full_unstemmed | A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report |
| title_short | A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report |
| title_sort | heterozygous stxbp1 gene de novo mutation in an iranian child with epileptic encephalopathy case report |
| topic | Syntaxin binding protein 1 (STXBP1) gene Mutation Epileptic encephalopathy |
| url | https://acta.tums.ac.ir/index.php/acta/article/view/8047 |
| work_keys_str_mv | AT masoudheidari aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT mortezasoleymannejad aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT mohammadhosseintaskhiri aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT alirezaisazadeh aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT manzarbolhassan aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT javadshahpouri aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT mansourheidari aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT nahidsadighi aheterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT masoudheidari heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT mortezasoleymannejad heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT mohammadhosseintaskhiri heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT alirezaisazadeh heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT manzarbolhassan heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT javadshahpouri heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT mansourheidari heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport AT nahidsadighi heterozygousstxbp1genedenovomutationinaniranianchildwithepilepticencephalopathycasereport |