先天性高胰岛素血症13例致病基因突变分析

目的对13例先天性高胰岛素血症患儿家系进行相关致病基因测序分析，对先天性高胰岛素血症患儿的遗传发病机制及其临床特征进行探讨。方法以2006年9月至2015年11月北京儿童医院收治的13例先天性高胰岛素血症患儿家系为研究对象。其中男8例，女5例。应用二代测序技术对患儿家系进行先天性高胰岛素血症相关致病基因的测序分析，然后运用一代测序技术对患儿携带的突变点进行验证，并对患儿父母进行相关突变点的测序分析。结果13例患儿家系中，病例1携带ABCC8基因W777X杂合突变，病例7及其父亲携带ABCC8基因L1439P杂合突变，病例13及其父亲携带ABCC8基因R16P杂合突变，病例4携带GLUDl基因N...

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Bibliographic Details
Published in中华糖尿病杂志 Vol. 9; no. 1; pp. 26 - 31
Main Author 张微 徐子迪 刘敏 闫洁 吴玉筠 桑艳梅
Format Journal Article
LanguageChinese
Published 100045首都医科大学附属北京儿童医院内分泌及遗传代谢中心儿科学国家重点学科 2017
Subjects
二氮嗪
先天性高胰岛素血症
基因突变
Diazoxide
二氮嗪
Congenital hyperinsulinism
先天性高胰岛素血症
Gene mutation
基因突变
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ISSN1674-5809
DOI10.3760/cma.j.issn.1674-5809.2017.01.008

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Summary:目的对13例先天性高胰岛素血症患儿家系进行相关致病基因测序分析，对先天性高胰岛素血症患儿的遗传发病机制及其临床特征进行探讨。方法以2006年9月至2015年11月北京儿童医院收治的13例先天性高胰岛素血症患儿家系为研究对象。其中男8例，女5例。应用二代测序技术对患儿家系进行先天性高胰岛素血症相关致病基因的测序分析，然后运用一代测序技术对患儿携带的突变点进行验证，并对患儿父母进行相关突变点的测序分析。结果13例患儿家系中，病例1携带ABCC8基因W777X杂合突变，病例7及其父亲携带ABCC8基因L1439P杂合突变，病例13及其父亲携带ABCC8基因R16P杂合突变，病例4携带GLUDl基因N463I杂合突变，病例11携带GLUDl基因H507Y杂合突变，病例9及其母亲携带SLCl6A1基因E496K杂合突变，其余7例患儿家系均未发现CHI相关致病基因突变。各例患儿对二氮嗪治疗反应不一。结论中国儿童中，ABCC8、GLUDl和SLCl6A1基因突变可导致先天性高胰岛素血症的发生。不同基因突变型对二氮嗪治疗效果不同，部分患儿有自愈倾向。
Bibliography:ZhangWei, Xu Zidi, Liu Min, Yan Jie, Wu Yujun, Sang Yanmei. National Key Discipline of Pediatrics, Ministry of Education; Endocrine and Genetic Metabolic Center, Beijing Children＇s Hospital Affiliated to Capital Medical University, Beifing 100045, China
Congenital hyperinsulinism; Gene mutation; Diazoxide
Objective To explore the gene mutations of the 13 children diagnosed as congenital hyperinsulinism（CHI）. Methods A total of 13 children with CHI （8 boys and 5 girls） hospitalized in Beijing Children＇s Hospital from September 2006 to November 2015 and their parents were chosen as the study subjects. Genetic sequencing analysis of CHI related genes were done with the second generation sequencing technology. The abrupt change points of the patients were validated with the first generation sequencing technology and the same points in the patients＇ parents were sequenced as well Results A W777X heterozygous mutation of ABCC8 gene was detected in case 1, an L1439P heterozygous mutation of ABCC8 gene was detected in
ISSN:1674-5809
DOI:10.3760/cma.j.issn.1674-5809.2017.01.008