Journal of Shandong University (Health Sciences) ›› 2022, Vol. 60 ›› Issue (8): 58-62.doi: 10.6040/j.issn.1671-7554.0.2021.1453

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

LI JUN, LI Baomin, YANG LU   

  1. Department of Pediatrics, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China
  • Published:2022-07-27

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

CLC Number: 

  • R748
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