UBA5 基因突变致早发性癫痫性脑病临床特征与遗传学分析

doi:10.6040/j.issn.1671-7554.0.2021.1453

摘要/Abstract

摘要： 目的探讨早发癫痫性脑病患者的临床特征和基因突变情况,为疾病诊断提供依据。方法应用二代测序技术对 1 例早发癫痫性脑病患者的外周血标本进行全外显子组测序(WES)检测,发现可疑致病位点后利用 Sanger 测序对患者及其父母进行验证分析。结果本次检出 UBA5 基因 c.214C>T(p.R72C)杂合变异(NM_024818)和 c.1141_1144delTCTG 杂合变异(NM_024818),均提示为疑似致病性变异。结论 UBA5 基因突变引起的早发性癫痫性脑病非常罕见,UBA5 基因可能是早发性癫痫性脑病患者的致病原因,为早发癫痫性脑病遗传咨询提供了依据。

关键词: 早发癫痫性脑病, 发育迟滞, UBA5 基因

Abstract: Objective To explore the clinical characteristics, gene mutations and etiology of patients with early onset epileptic encephalopathy(EOEE)so as to provide reference for the diagnosis. Methods Next-generation sequencing technology was performed for exome sequencing in the genomes of 1 EOEE patient. Suspected mutations were validated with Sanger sequencing in the patient and parents. Results The c.214C>T(p.R72C)heterozygous variation(NM_024818)and c.1141_1144delTCTG chimeric variation(NM_024818)were detected in UBA5 gene, suggesting possible pathogenicity. Conclusion EOEE induced by mutations in the UBA5 gene is very rare. Combined with the previously reported UBA5 cases, mutations in the UBA5 gene may be the etiology of EOEE, which provide a basis for the genetic counselling of the disease.

Key words: Early onset epileptic encephalopathy, Developmental delay, UBA5 gene

中图分类号:

R748

李军,李保敏,杨璐. UBA5 基因突变致早发性癫痫性脑病临床特征与遗传学分析[J]. 山东大学学报 (医学版), 2022, 60(8): 58-62.

LI JUN, LI Baomin, YANG LU. Clinical characteristics and genetic analysis of early onset epileptic encephalopathy induced by UBA5 gene mutation[J]. Journal of Shandong University (Health Sciences), 2022, 60(8): 58-62.

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