UBA5基因突变致早发性癫痫性脑病临床特征与遗传学分析

Clinical characteristics and genetic analysis of early onset epileptic encephalopathy induced by UBA5 gene mutation

目的探讨早发癫痫性脑病(EOEE)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。

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.214 C>T(p.R72 C)heterozygous variation(NM_024818)and c.1141_1144 delTCTG 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.