摘要目的:分析1例局灶节段性肾小球硬化和神经发育综合征(FSGSNEDS)患儿的遗传学特征。方法:选取2019年9月15日于胜利油田中心医院儿科就诊的1例FSGSNEDS患儿为研究对象。收集患儿的临床资料，应用家系全外显子组测序(trio-WES)、Sanger测序、染色体核型分析和拷贝数变异测序(CNV-seq)对患儿及其父母进行遗传学分析。结果:患儿为3岁男性，主要临床表现为发育迟缓、肾病综合征和癫痫。Trio-WES以及Sanger测序结果显示患儿携带 TRIM8基因c.1375C>T(p.Q459*)杂合变异，其父母该位点为野生型。根据美国医学遗传学与基因组学学会(ACMG)相关指南评估为致病性变异。患儿及其父母的染色体核型及CNV-seq结果未见异常。 结论:患儿被确诊为FSGSNEDS， TRIM8基因c.1375C>T变异可能是其遗传学病因。

abstractsObjective:To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS).Methods:A child with FSGSNEDS who had visited Shengli Oilfield Central Hospital on September 15, 2019 was selected as the study subject. Clinical data of the child was collected, and trio-whole exome sequencing (trio-WES), Sanger sequencing, chromosomal karyotyping analysis, and copy number variation sequencing (CNV-seq) were used to analyze the child and his parents.Results:The child, a 3-year-old boy, had manifested developmental delay, nephrotic syndrome, and epilepsy. Trio-WES and Sanger sequencing showed that he has carried a heterozygous c. 1375C>T (p.Q459*) variant of the TRIM8 gene, for which both his parents were of the wild type. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. No abnormality was found in the chromosomal karyotyping and CNV-seq results of the child and his parents. Conclusion:The child was diagnosed with FSGSNEDS, for which the c. 1375C>T variant of the TRIM8 gene may be accountable.