STX3基因突变致微绒毛包涵体病的基因诊断  

Genetic diagnosis for microvillus inclusion disease caused by STX3 gene mutations

作　　者：陈衍晨[1] 欧阳学军[1] 王斌[1] CHEN Yan-chen;OUYANG Xue-jun;WANG Bin(Pediatrics Center, ZhuJiang Hospital of Southern Medical University, Guangdong, Guangzhou 510282, China)

机构地区：[1]南方医科大学珠江医院儿科中心,广东广州510282

出　　处：《发育医学电子杂志》2018年第1期30-33,57,共5页Journal of Developmental Medicine (Electronic Version)

基　　金：广州市炎症与免疫性疾病重点实验室基金[(2012)224-6号]

摘　　要：目的探讨微绒毛包涵体病(microvillus inclusion disease,MVID)患儿临床表型与基因型的关系,以提高对MVID的认识。方法 2017年4月,1例MVID患儿在南方医科大学珠江医院新生儿科住院治疗,2017年6月采用二代测序法对患儿及其父母进行基因测序,采用一代测序方法对患儿胞兄进行定点突变检测。回顾性分析患儿临床表现、治疗、预后及家系基因测序结果。结果患儿女,胎儿期提示肠管扩张,生后第2天开始出现腹泻,为黄绿色黏液样便,合并多种电解质紊乱及代谢性酸中毒。基因测序结果显示,患儿STX3基因无义突变,突变位点为c.424C>T和c.739C>T,分别遗传自表型正常的父母。患儿胞兄8岁,表型正常,测序结果显示有STX3基因的1个杂合突变,位点为c.424C>T(p.R142),突变来源于表型正常的母亲。该突变为国内首次报道。结论 STX3基因分析有助于微绒毛包涵体病的诊断。Objective To explore the relationship between the clinical phenotype and genotype of microvillus inclusion disease（MVID） and to promote the awareness of MVID.Methods A newborn with MVID was hospitalized and treated in Neonatology Department of Zhu Jiang Hospital of Southern Medical University on April 2017.Second-generation sequencing technology was adopted for the gene sequencing of the newborn and her parents on June 2017.Meanwhile one-generation sequencing technology was adopted for the spot mutation detection of her brother.The clinical features,treatment,prognosis and family gene sequencing results were retrospectively analyzed.Results This newborn was female and had a dilated intestinal canal during the prenatal period,who presented diarrhea with yellow-green mucus at 2 days after birth,complicating with polyelectrolyte disorders and metabolic acidosis.The sequencing results showed that there were two nonsense mutations of gene STX3,that were c.424 C〉T（p.R142） and c.739 CT（p.R247）,which inherited from her parents who showed normal phenotype.Her brother was eight years old and proved to be a heterozygote of the c.424 C〉T（p.R142） of the gene STX3,inherited from their healthy mother.This mutation was first discovered in China.Conclusion The sequencing analysis of STX3 mutation may be helpful for the diagnosis of MVID.

关 键 词：微绒毛包涵体病 STX3 基因诊断 

分 类 号：R440[医药卫生—诊断学] R725.9[医药卫生—临床医学]