Sun Xuhui, Xin Min, Tian Jingmei, Zhang Yingying, Jiao Qinqin, Yang Yong, Liu Jinxiu
Department of Pediatrics, Shengli Oilfield Central Hospital, Dongying, Shandong 257034, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1155-1159. doi: 10.3760/cma.j.cn511374-20220831-00592.
To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS).
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.
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.
The child was diagnosed with FSGSNEDS, for which the c.1375C＞T variant of the TRIM8 gene may be accountable.
探讨一名患有局灶节段性肾小球硬化症和神经发育综合征（FSGSNEDS）儿童的遗传特征。
选取一名于2019年9月15日就诊于胜利油田中心医院的FSGSNEDS患儿作为研究对象。收集该患儿的临床资料，并采用三联体全外显子组测序（trio-WES）、桑格测序、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分析。
该患儿为一名3岁男童，表现出发育迟缓、肾病综合征和癫痫。三联体全外显子组测序和桑格测序显示，他携带TRIM8基因的杂合c.1375C＞T（p.Q459*）变异，其父母均为野生型。根据美国医学遗传学与基因组学学会（ACMG）的指南，该变异被预测为致病性变异。患儿及其父母的染色体核型分析和CNV-seq结果均未发现异常。
该患儿被诊断为FSGSNEDS，TRIM8基因的c.1375C＞T变异可能是其病因。
