父源性MED13L基因错义变异致MED13L综合征1例并文献复习

MED13L Syndrome Caused by Paternal Missense Mutation in the MED13L Gene: A Case Report and Literature Review

摘要: 目的：分析1例父源性MED13L基因错义变异致MED13L综合征患儿的临床资料，并进行文献复习。方法：对济宁医学院附属医院儿科收治的1例MED13L基因错义变异致MED13L综合征患儿的临床资料进行回顾性分析，并检索国内外数据库，总结错义变异致MED13L综合征的基因型及临床表型。结果：(1) 患儿，男，4岁8个月，因“间断抽搐14天”入院。临床表现为生后喂养困难、口部运动障碍、特殊面容、全面发育落后、癫痫、脑电图痫样放电、多小脑回畸形。全外显子组测序显示MED13L基因c.418G>A(p.Val140Ile)杂合错义变异，变异来源于患儿父亲，患儿父亲主要表现为轻度语言发育迟缓和学习困难。(2) 至2025年6月，检索MED13L错义变异致MED13L综合征相关文献，总结临床资料完整病例共21例，发现17个突变位点，临床表现为特殊面容、智力障碍、语言运动发育落后、肌张力减低、癫痫、先天性心脏病等。结论：MED13L基因错义变异致MED13L综合征临床罕见，可由亲源遗传致病，对临床表现为特殊面容、口部运动障碍、智力低下、语言运动发育落后、癫痫、脑电图异常的患儿，要警惕MED13L综合征可能，脑电图痫样放电对癫痫发作风险可能存在预测作用。

Abstract: Objective: To analyze the clinical data of a child with MED13L syndrome caused by paternal missense mutation in the MED13L gene and review the literature. Methods: A retrospective analysis was performed on the clinical data of a child with MED13L syndrome caused by MED13L gene missense mutation admitted to the Department of Pediatrics, Affiliated Hospital of Jining Medical University. Domestic and foreign databases were searched to summarize the genotypes and clinical phenotypes of MED13L syndrome caused by missense mutations. Results: (1) A 4-year-and-8-month-old male child was admitted due to “intermittent convulsions for 14 days”. He presented with postnatal feeding difficulties, oral motor dysfunction, special facial features, global developmental delay, epilepsy, epileptiform discharges on electroencephalogram (EEG), and polymicrogyria. Whole-exome sequencing revealed a heterozygous missense mutation c.418G>A(p.Val140Ile) in the MED13L gene, which was inherited from the child’s father. The father mainly presented with mild language developmental delay and learning difficulties. (2) As of June 2025, relevant literatures on MED13L syndrome caused by MED13L missense mutations were searched, and a total of 21 cases with complete clinical data were summarized. Seventeen mutation sites were identified, with the main manifestations including special facial features, intellectual disability, language and motor developmental delay, hypotonia, epilepsy, and congenital heart disease. Conclusion: MED13L syndrome caused by MED13L gene missense mutation is clinically rare and can be caused by parental inheritance. For children with clinical manifestations such as special facial features, oral motor dysfunction, intellectual disability, language and motor developmental delay, epilepsy, and abnormal EEG, the possibility of MED13L syndrome should be alert. Epileptiform discharges on EEG may have a predictive effect on the risk of epileptic seizures.