A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

Heidari M¹ ; Soleymannejad M² ; Taskhiri MH^{2, 3} ; Isazadeh A⁴ ; Bolhassani M² ; Shahpouri J⁵ ; Heidari M¹ ; Sadighi N⁷

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1. Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
2. Ariagene Medical Genetics Laboratory, Qom, Iran
3. Department of Molecular Biology, Islamic Azad University of Qom, Qom, Iran
4. Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
5. Pediatric Clinical Research of Development Center, Qom University of Medical Sciences, Qom, Iran
6. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
7. Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran

Source: Acta Medica Iranica Published:2019

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. © 2019 Tehran University of Medical Sciences.

Style	Citing Format
MLA	Heidari M, et al.. "A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report." Acta Medica Iranica, vol. 57, no. 8, 2019, pp. 518-521.
APA	Heidari M, Soleymannejad M, Taskhiri MH, Isazadeh A, Bolhassani M, Shahpouri J, Heidari M, Sadighi N (2019). A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report. Acta Medica Iranica, 57(8), 518-521.
Chicago	Heidari M, Soleymannejad M, Taskhiri MH, Isazadeh A, Bolhassani M, Shahpouri J, Heidari M, Sadighi N. "A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report." Acta Medica Iranica 57, no. 8 (2019): 518-521.
Harvard	Heidari M et al. (2019) 'A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report', Acta Medica Iranica, 57(8), pp. 518-521.
Vancouver	Heidari M, Soleymannejad M, Taskhiri MH, Isazadeh A, Bolhassani M, Shahpouri J, et al.. A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report. Acta Medica Iranica. 2019;57(8):518-521.
BibTex	@article{ author = {Heidari M and Soleymannejad M and Taskhiri MH and Isazadeh A and Bolhassani M and Shahpouri J and Heidari M and Sadighi N}, title = {A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report}, journal = {Acta Medica Iranica}, volume = {57}, number = {8}, pages = {518-521}, year = {2019} }
RIS	TY - JOUR AU - Heidari M AU - Soleymannejad M AU - Taskhiri MH AU - Isazadeh A AU - Bolhassani M AU - Shahpouri J AU - Heidari M AU - Sadighi N TI - A Heterozygous Stxbp1 Gene De Novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report JO - Acta Medica Iranica VL - 57 IS - 8 SP - 518 EP - 521 PY - 2019 ER -

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