目的:对1例Aarskog-Scott综合征患儿的n FGD1基因进行变异分析，明确其可能的致病原因。n 方法:应用高通量测序技术对患儿进行基因变异分析，并对可疑变异位点进行患儿及其父母的Sanger测序验证及生物信息学分析。结果:基因检测提示患儿的n FGD1基因存在c.1906C>T错义半合子变异，导致n FGD1基因编码的蛋白第636位氨基酸由精氨酸变异为色氨酸(p.Arg636Trp)；其母亲为c.1906C>T杂合变异携带者，父亲未见变异。根据美国医学遗传学与基因组学学会遗传变异分类标准与指南，n FGD1基因c.1906C>T变异判定为可能致病变异(PM1+PM2+PM5+PP2+PP3+PP4)。n 结论:FGD1基因c.1906C>T变异可能是这例Aarskog-Scott综合征患儿的致病原因，基因检测结果可以为患儿的临床诊断提供依据。n “,”Objective:To detect pathogenic variant of the n FGD1 gene in a boy with Aarskog-Scott syndrome.n Methods:Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.Results:The child was found to harbor a novel c. 1906C>T hemizygous variant of then FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c. 1906C>T variant ofn FGD1 gene was predicted to be likely pathogenic(PM1+ PM2+ PM5+ PP2+ PP3+ PP4).n Conclusion:The novel c. 1906C>T variant of then FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.n