Department of Pediatrics, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Department of Pediatric Neurology and Endocrinology, the Affiliated Hospital of Qingdao University, Qingdao, China.
Int J Dev Neurosci. 2021 Nov;81(7):663-668. doi: 10.1002/jdn.10115. Epub 2021 Jun 16.
Variants in HNRNPU have been reported in patients with epileptic encephalopathy, early infantile 54 (OMIM 602,869). We hereby describe two children from different families with autosomal dominance early-onset epileptic encephalopathy and summarize the genotype and phenotype of reported individuals. Whole-exome sequencing analysis was applied to the patients. De novo frameshift variants in the HNRNPU, c.143_149del7 (p.G48Afs11) and c.1282delC(p.G429Afs53) were identified. This is the first time to report Chinese patients with early infantile epileptic encephalopathy caused by HNRNPU variants, and so far, these variants have not been reported in population gene database. This study expands our knowledge of HNRNPU variants and emphasizes the importance of early gene diagnosis.
已有研究报道，HNRNPU 中的变异与癫痫性脑病、早发性婴儿型 54 型（OMIM 602,869）有关。本研究报道了两例来自不同家系的常染色体显性遗传早发性癫痫性脑病患者，总结了已报道个体的基因型和表型。对患者进行了全外显子组测序分析，发现 HNRNPU 中的 c.143_149del7（p.G48Afs11）和 c.1282delC（p.G429Afs53）为新生错义变异。这是首次报道 HNRNPU 变异导致的中国早发性婴儿型癫痫性脑病患者，迄今为止，这些变异尚未在人群基因数据库中报道。本研究扩展了我们对 HNRNPU 变异的认识，并强调了早期基因诊断的重要性。
