A De-Novo SCN2A Mutation Identified in a Chinese Patient With Epilepsy: A Case Report Volume 2 - Issue 3

>Shuna Duan^1**, Weicheng Hao^1**, Yongxiong Zhao¹, Xiuping Zhang¹, Guihua An¹, Jianbing Zhang¹, Congxi Liu¹, Yaxi Zhang², Yanxia Mi², Jianli Zhang², Yuxi Liu^1* and Jianxiong Duan^2*

• ¹Department of Neurology, the Second Hospital of Shanxi Medical University, Taiyuan City, People’s Republic of China
• ²Shanxi Guoxin Caregeno Medical Laboratory, People’s Republic of China
• ^** Co First author: These authors contributed equally to this work.

Received: January 15, 2021   Published: January 25, 2021

Corresponding author: Jianxiong Duan (jianxiongDuan@careegeno.com) Yuxi Liu (liuyuxi2003@163.com)

DOI: 10.32474/LOJPCR.2021.02.000139

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Abstract

Objective: To investigate the genetic causes of epilepsy in a 5-year-old Chinese female patient.

Methods: Clinical diagnosis and next-generation sequencing.

Results: The patient carries a de-novo heterozygous missense mutation (c.3686 A>T p.Asp1229Val) in the SCN2A gene. This mutation was evaluated as a pathogenic mutation based on the standards and guidelines of ACMG (American College of Medical Genetics and Genomics) and clinical research publications.

Conclusion: The de-novo heterozygous mutation (c.3686 A>T p.Asp1229Val) in the SCN2A gene is the genetic cause of the epilepsy for the patient. So far, this mutation of SCN2A gene is the first reported in the worldwide overall populations.

Keywords: Chinese; Epilepsy; SCN2A gene

Abbreviations: Whole Exome Sequencing (WES); Sanger sequencing; American College of Medical Genetics and Genomics (ACMG)

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