One case of developmental epileptic encephalopathy caused by NR4A2 gene variation and literature review
10.3760/cma.j.cn113694-20221225-00966
- VernacularTitle:NR4A2基因变异所致的发育性癫痫性脑病1例并文献复习
- Author:
Shiyan QIU
1
;
Shaoxia SUN
;
Li YANG
;
Yufen LI
;
Liyun XU
;
Bing XIA
;
Ying HUA
Author Information
1. 临沂市人民医院儿童神经内科，临沂 276000
- Keywords:
Epilepsy;
Developmental disabilities;
Child;
Orphan nuclear receptor;
NR4A2 gene
- From:
Chinese Journal of Neurology
2023;56(8):909-914
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics of a child with developmental epileptic encephalopathy caused by NR4A2 gene mutation, and to summarize the clinical phenotypes and genotypes to improve the clinician′s understanding of this disease. Methods:The clinical data of a child with developmental epileptic encephalopathy admitted to Linyi People′s Hospital in August 2022 were collected, video electroencephalogram, craniocerebral magnetic resonance imaging and family whole exon sequencing were improved, and the suspected mutation sites were verified by Sanger sequencing. Relevant literature was consulted to summarize the clinical phenotypes and genetic characteristics of nervous system diseases caused by NR4A2 gene. Results:It was found that there was a heterozygous missense mutation at the locus c.866G>A (p.A289H) of NR4A2 gene in the child, which was a de novo mutation, and both parents were wild type. According to the American Society of Medical Genetics and Genomics variation classification, it was assessed as a suspected pathogenic variation. Through literature review, there were 16 related cases reported internationally, with clinical phenotypes including mental retardation/mental retardation, language disorders, seizures, muscle tone changes and different psychological and behavioral problems. Conclusions:The NR4A2 gene is not only associated with dopa responsive disorders, but also with neurological development, intellectual impairment, language development delay, and epilepsy. The mutation of NR42A gene c.866G>A (p.A289H) is the genetic cause of the patient, and the detection of this locus expands the NR4A2 gene spectrum. NR4A2 gene is one of the pathogenic genes of developmental epileptic encephalopathy.
