目的:探讨3例n FOXP1基因新发变异导致智力发育迟缓、语言障碍和自闭特征患儿临床特点及遗传学基础。n 方法:对患儿进行全面的临床资料收集，应用全外显子家系检测对患儿及父母行基因检测，并通过相关生物信息学预测分析变异的致病性。结果:3例患儿均有不同程度的智力障碍伴语言障碍、全面发育迟缓、行为异常及特殊面容等，其中2例出现自闭症谱系障碍症状。基因检测结果显示3例患儿n FOXP1基因均发生新发变异c.613_c.614delCTinsTA、c.1248delC及c.1393A>G，2例为移码变异及1例错义变异，经ACMG指南均评级为致病性。经查询数据库，c.613_c.614delCTinsTA及c.1248delC变异既往未见报道。n 结论:在3个无关家庭中发现3例智力障碍伴语言障碍、全面发育迟缓、行为异常及特殊面容等症状患儿，n FOXP1基因c.613_c.614delCTinsTA、c.1248delC及c.1393A>G可能是3例患儿的致病因素。本组病例进一步拓展了FOXP1缺陷综合征基因型-表型谱。n “,”Objective:To analyze the clinical features and genetic basis of three children with mental retardation, language impairment and autistic features due to n de novo variants of n FOXP1 gene.n Methods:Clinical data of the children were collected.Trio-whole exome sequencing was carried out for the children and their parents. Pathogenicity of the variants was analyzed through bioinformatics prediction.Results:All of the children had various degrees of mental retardation in conjunct with language deficit, global developmental delay, abnormal behavior and peculiar facial features, among whom two also developed autism spectrum disorders. The results of genetic testing showed that all three children harbored n de novo variants of the n FOXP1 gene, namely c. 613_c.614delCTinsTA, c. 1248delC and c. 1393A>G. Two of these were frameshift variants and one was missense variant, which were all rated as pathogenic based on the guidelines of the American College of Medical Genetics (ACMG). Database search suggested that c. 613_c.614delCTinsTA and c. 1248delC were unreported previously.n Conclusion:For the three children from unrelated families with mental retardation in conjunct with language deficit, global growth delay, abnormal behavior and peculiar facial features, the c. 613_ c. 614delCTinsTA, c. 1248delC and c. 1393A>G variants of then FOXP1 gene may be the pathogenic factors. Above cases have further expanded the genotype - phenotype profile of n FOXP1 deficiency syndrome.n