目的:对1例智力障碍患者的 n TRIP12基因进行变异分析，明确其致病原因。n 方法:应用全外显子测序及Sanger测序验证，并对其家系成员进行验证。结果:测序结果显示先证者 n TRIP12基因存在c.40C>T(p.Arg14X)杂合无义变异，其父母该位点未检测到变异，为新发变异(n de novo)，查阅人类基因变异数据库未见该变异类型报道。根据美国医学遗传学及基因组学学会遗传变异解读指南，c.40C>T变异判定为致病性变异(PVS1＋PS2＋PP3)。n 结论:这例患者为 n TRIP12基因c.40C>T杂合变异导致的常染色体显性遗传智力障碍。n “,”Objective:To explore the genetic basis for a patient with intellectual disability.Methods:Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family.Results:DNA sequencing revealed that the patient has carried a heterozygous nonsense c. 40C>T (p.Arg14X) variant of then TRIP12 gene, which was n de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the ACMG standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3).n Conclusion:The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c. 40C>T variant of then TRIP12 gene.n