A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal Publisher Pubmed

Pourahmadiyan A¹ ; Heidari M² ; Shojaaldini Ardakani H² ; Noorian S³ ; Savad S⁴

Show Affiliations

1. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
2. Tehran University of Medical Sciences, Tehran, Iran
3. Department of Pediatric Endocrinology Metabolism, Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran
4. Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran

Source: International Journal of Neuroscience Published:2021

Abstract

Introduction: Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by microcephaly, rigidity, intractable focal seizures, apnea, and bradycardia at or soon after birth. RMFSL is related to BRCA1-associated ATM activator 1 (BRAT1) gene mutations. Methods: An Iranian couple with history of infant death due to RMFSL was referred to our genetics lab for specialized genetic counseling and testing. Whole Exome Sequencing (WES) was applied. Following WES, Sanger sequencing was performed to confirm the candidate variant. Result: A novel nonsense variant (c.2041G > T, p. E681X) was identified in exon 14 of the BRAT1 gene. Based on the American College of Medical Genetics and Genomics guideline this variant was classified as a pathogenic variant. Conclusion: This research expands the spectrum of BRAT1 pathogenic variants in RMFSL syndrome and demonstrates the utility of WES in genetic diagnostic. © 2020 Informa UK Limited, trading as Taylor & Francis Group.

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Style	Citing Format
MLA	Pourahmadiyan A, et al.. "A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal." International Journal of Neuroscience, vol. 131, no. 9, 2021, pp. 875-878.
APA	Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S (2021). A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal. International Journal of Neuroscience, 131(9), 875-878.
Chicago	Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S. "A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal." International Journal of Neuroscience 131, no. 9 (2021): 875-878.
Harvard	Pourahmadiyan A et al. (2021) 'A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal', International Journal of Neuroscience, 131(9), pp. 875-878.
Vancouver	Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S. A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal. International Journal of Neuroscience. 2021;131(9):875-878.
BibTex	@article{ author = {Pourahmadiyan A and Heidari M and Shojaaldini Ardakani H and Noorian S and Savad S}, title = {A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal}, journal = {International Journal of Neuroscience}, volume = {131}, number = {9}, pages = {875-878}, year = {2021} }
RIS	TY - JOUR AU - Pourahmadiyan A AU - Heidari M AU - Shojaaldini Ardakani H AU - Noorian S AU - Savad S TI - A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal JO - International Journal of Neuroscience VL - 131 IS - 9 SP - 875 EP - 878 PY - 2021 ER -

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