KCNJ11突变的年轻成年发病型糖尿病13型家系临床分析  

Maturity-onset diabetes of the young type 13 in two families with KCNJ11 gene mutation:case report

作　　者：邱秀萍 涂梅[1] 陈阳[1] 丘水林 陈杭菊 童艳 QIU Xiuping;TU Mei;CHEN Yang(Department of Endocrinology,Longyan First Hospital,Longyan 364000,China)

机构地区：[1]龙岩市第一医院内分泌科,364000

出　　处：《中国糖尿病杂志》2021年第6期410-415,共6页Chinese Journal of Diabetes

摘　　要：对2个伴有整流性钾离子通道J家族11因子(KCNJ11)突变的MODY13家系进行遗传病因分析。应用全外显子组测序分析发现,两个家系为KCNJ11突变,但突变位点不同。本报告首次报道有关KCNJ11突变的致病性。Genetic etiology of two MaturityOnset Diabetes of the Young Type 13(MODY13) families with rectifier potassium channel J family factor 11(KCNJ11)mutation was analyzed.Whole exome sequencing analysis showed that the two families had two different KCNJ11 mutations.This is the first report on the pathogenicity of the two KCNJ11 mutations.

关 键 词：糖尿病 基因 年轻的成年发病型糖尿病 

分 类 号：R587.1[医药卫生—内分泌]