Liu Yanping, Yang Liu, Li Tingting, Cao Ruiming, Ren Chunming, Lei Xiang
Department of Pediatrics, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1145-1148. doi: 10.3760/cma.j.cn511374-20220215-00108.
To explore the clinical characteristics of a child with early-onset infantile epileptic encephalopathy type 8 associated with synonymous variant of ARHGEF9 gene.
Clinical data of the patient was summarized. The child and his parents were subjected to trio-whole exome sequencing.
The child has presented with global developmental delay, epilepsy, impulsive behavior, hypersensitivity to sound, and mental retardation. He was found to harbor a de novo synonymous variant c.741C>T (p.Cys247Cys) of the ARHGEF9 gene. RNA splicing analysis confirmed that the variant has led to abnormal splicing of exon 5, resulting in a 55-bp deletion.
The clinical features of ARHGEF9 gene-related early-onset infantile epileptic encephalopathy type 8 includes mental and motor developmental delay, epilepsy, auditory allergy, and hyperactivity impulsivity. For synonymous variant, in vitro study and transcriptional experiment may be carried out to evaluate its functional and splicing effect. Above finding has enriched the phenotypic and genotypic spectrum of the ARHGEF9 gene.
探讨1例与ARHGEF9基因同义变异相关的早发型8型婴儿癫痫性脑病患儿的临床特征。
总结该患者的临床资料。对患儿及其父母进行三联体全外显子测序。
该患儿表现为全面发育迟缓、癫痫、冲动行为、对声音过敏及智力障碍。发现其携带ARHGEF9基因的一个新生同义变异c.741C>T（p.Cys247Cys）。RNA剪接分析证实该变异导致外显子5异常剪接，造成55个碱基对缺失。
ARHGEF9基因相关的早发型8型婴儿癫痫性脑病的临床特征包括精神和运动发育迟缓、癫痫、听觉过敏及多动冲动。对于同义变异，可进行体外研究和转录实验以评估其功能和剪接效应。上述发现丰富了ARHGEF9基因的表型和基因型谱。
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