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目的:分析1例Bainbridge-Ropers综合征患儿及其父母n ASXL3基因的变异类型，明确其可能的遗传学病因，为其临床诊断和遗传咨询提供依据。n 方法:采集患儿和父母的外周血样，应用全外显子测序的方法对患儿基因进行检测，并采用Sanger测序的方法对变异位点进行验证。结果:全外显子测序结果显示，患儿的n ASXL3基因c.3106C>T杂合变异(p.Arg1036*)，父母外周血n ASXL3基因该位点未检测到c.3106C>T变异。该变异为无义变异，会产生截短蛋白。根据美国医学遗传学与基因组学学会变异分类标准与指南，c.3106C>T变异为致病性变异(PVS1＋PS2＋PP4)。n 结论:ASXL3基因c.3106C>T杂合变异可能为患儿的致病原因，通过n ASXL3基因变异分析，可以为其临床诊断和遗传咨询提供依据。n “,”Objective:To explore the genetic basis for a child affected with Bainbridge-Ropers syndrome.Methods:Genomic DNA was extracted from peripheral venous blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out to detect genetic variant of the proband. Candidate variant was verified by Sanger sequencing.Results:The 3-year-old boy presented with psychomotor retardation, linguistic difficulties, mental retardation and peculiar craniofacial phenotype. A n de novo heterozygous nonsense variant of the n ASXL3 gene, c. 3106C>T, was identified by WES in the proband, and the same mutation was not found among his parents. Based no the American College of Medical Genetics and Genomics standards and guidelines, the c. 3106C>T variant was predicted to be pathogenic(PVS1+ PS2+ PP4).n Conclusion:The heterozygous variant c. 3106C>T of then ASXL3 gene probably underlies the Bainbridge-Ropers syndrome in the patient. Above result has enabled the clinical diagnosis and genetic counseling for the family.n