DGAT1基因缺陷致先天性腹泻病患儿1例  

A case of congenital diarrhea caused by DGAT1 gene defect in a child

作　　者：贾囡 张玉凤 王小燕[1] 刘瑞清 唐甜甜[1] 徐鹏飞 宋鹤 闫乐 Jia Nan;Zhang Yufeng;Wang Xiaoyan;Liu Ruiqing;Tang Tiantian;Xu Pengfei;Song He;Yan Le(Infection Department of Children’s Hospital,the Affiliated Hospital of Xi’an Jiaotong University,Xi’an 710003,China)

机构地区：[1]西安交通大学附属儿童医院感染科,西安710003

出　　处：《国际遗传学杂志》2024年第3期225-228,共4页International Journal of Genetics

摘　　要：目的分析1例蛋白丢失肠病7型腹泻患儿临床表现及遗传学特点。方法采集患儿及其父母EDTA抗凝血5 mL, 使用NanoWES捕获探针进行全外显子组高通量测序, 利用Verita Trekker变异位点检测系统和Enliven变异位点注释解读系统对数据进行分析。结果患儿携带DGAT1基因NIM-012079.6:c.1183C>T(p.R395*)和c.1077-1088 dupGTTCTACCGGGA(p.E359-R362dup)复合杂合突变, 分别来源于父母双方。结论本例病例发现DGAT1基因c.1183C>T(p.R395*)杂合突变, 扩展了蛋白丢失肠病7型腹泻的基因谱。Objective Analyze the clinical manifestations and genetic characteristics of a child with protein-loss enteropathy type 7 diarrhea.Methods Collect 5 mL of EDTA anticoagulant from the patient and their parents,perform high-throughput whole exome sequencing using NanoWES capture probes,and analyze the data using the Verita Trekker variant site detection system and the Enliven variant site annotation interpretation system.Results The patient carries a compound heterozygous mutation in the DGAT1 gene NIM-012079.6:c.1183C>T(p.R395*)and c.1077-1088dupGTTCTACCGGA(p.E359-R362dup),originating from both parents.Conclusion In this case,a heterozygous mutation c.1183C>T(p.R395*)was found in the DGAT1 gene,which extended the gene spectrum of protein-loss enteropathy type 7 diarrhea.

关 键 词：DGAT1基因 腹泻 蛋白丢失肠病7型腹泻 生长迟缓 

分 类 号：R725.7[医药卫生—儿科]