SLC12A3基因新突变导致Gitelman综合征的家系分析  

Analysis of novel mutations of SLC12A3 gene in a pedigree with Gitelman syndrome

作　　者：张瑜 方婷婷 ZHANG Yu;FANG Tingting(Department of Endocrinology and Metabolism,Xuyi People′s Hospital,Huai′an,Jiangsu 211700,China;Department of Critical Care Medicine,Suqian First People′s Hospital,Suqian,Jiangsu 223800)

机构地区：[1]盱眙县人民医院内分泌科,江苏盱眙211700 [2]宿迁市第一人民医院重症医学科,江苏宿迁223800

出　　处：《徐州医科大学学报》2023年第9期693-696,共4页Journal of Xuzhou Medical University

摘　　要：目的探讨1个Gitelman综合征家系的临床特征及遗传学病因,并进行文献复习。方法对先证者进行查体、电解质测定、外显子组测序及分析,对目标变异进行Sanger测序并在家系成员中验证。结果先证者及其同胞姐姐均符合Gitelman综合征诊断,表现为低血钾、低血镁、低尿钙、正常血压。2人均携带SLC12A3基因c.1850A>G、c.909delG复合杂合突变,均为新突变。三代家系成员中3人携带c.1850A>G杂合突变,2人携带c.909delG杂合突变,杂合子无低血钾。结论SLC12A3基因c.1850A>G、c.909delG新突变是该家系致病突变。Objective To investigate the clinical features andgenetic etiology of a pedigree with Gitelman syndrome and review the literature.Methods Physical examination,electrolyte determination,and exome sequencing were performed on the proband.The target mutation was analyzed by Sanger sequencing and verified in family members.Results The proband and his sister were diagnosed with Gitelman syndrome,with hypokalemia,hypomagnesemia,hypocalciuria and without hypertension.Both the proband and his sister showed compound heterozygous mutations c.1850A>G and c.909delG in SLC12A3 gene.Three of the family members carried the mutation c.1850A>G,while two of them carried the mutation c.909delG.No hypokalemia was found in heterozygotes.Conclusions The novel mutations c.1850A>G and c.909delG in SLC12A3 gene cause Gitelman Syndrome in this family.

关 键 词：GITELMAN综合征 SLC12A3基因 低血钾症 低镁血症 基因突变 

分 类 号：R589.4[医药卫生—内分泌]