Early-onset epileptic encephalopathy caused by the UBA5 gene mutation: a case report and literature review
10.3760/cma.j.cn101070-20210209-00179
- VernacularTitle:UBA5基因突变致早发性癫痫性脑病1例并文献复习
- Author:
Zhao XU
1
;
Xiaoli ZHANG
;
Tianming JIA
;
Yan DONG
;
Xiaoxiao JING
Author Information
1. 郑州大学第三附属医院儿内科，郑州 450052
- Keywords:
Development delay;
Microcephaly;
Infant;
Early-onset epileptic encephalopathy;
UBA5 gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(6):450-453
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical and genetic characteristics of a case of early-onset epileptic encephalopathy caused by the UBA5 gene mutation and to review relevant literatures. Methods:The clinical characte-ristics and genetic data of a child with the UBA5 gene mutation in the Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University in June 2020 were retrospectively analyzed.Clinical characteristics and gene variation characteristics of the disease were reviewed in the domestic and foreign databases. Results:(1) The female patient presented infantile spasms at the age of 4 months.Electroencephalogram(EEG) suggested hypsarrhythmia and she was not responsive to a variety of anti-epileptic drugs.Besides, the patient showed severe cognitive and motor development delay, hypotonia, and microcephaly.The results of whole exome sequencing showed that the compound heterozygous mutation of UBA5 gene: exon 3 c. 214C>T (p.R72C) and exon 9 c. 844_c.845 insA (p.Y282Xfs*1), her father carries c. 214C>T mutation and her mother carries c. 844_c.845 INSA mutation.(2) To December 2020, a total of 15 cases of early-onset epileptic encephalopathy caused by the UBA5 gene mutation have been reported abroad.The main clinical manifestations were uncontrollable spasms, abnormal EEG findings, hypotonia, severe cognitive and movement disorders, microcephaly, and brain atrophy.A total of 11 mutation sites of the UBA5 gene were found, all belonging to the autosomal recessive inheritance, of which c. 1111G>A was the most common. Conclusions:The UBA5 gene mutation can lead to early-onset epileptic encephalopathy, which belongs to the autosomal recessive inheritance.It is featured by the early onset, uncontrollable seizures and poor long-term prognosis.
