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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| Published in | 中华糖尿病杂志 Vol. 9; no. 1; pp. 26 - 31 |
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| Main Author | |
| Format | Journal Article |
| Language | Chinese |
| 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
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1674-5809 |
| DOI | 10.3760/cma.j.issn.1674-5809.2017.01.008 |
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| Abstract | 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。 |
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| AbstractList | 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。 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GLUD1基因N463I杂合突变，病例11携带GLUD1基因H507Y杂合突变，病例9及其母亲携带SLC16A1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、GLUD1和SLC16A1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。 |
| Abstract_FL | 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 case 7 and his father, a R16P heterozygous mutation of ABCC8 gene was detected in case 13 and his father, a N463I heterozygous mutation of GLUD1 gene was detected in case 4, an H507Y heterozygous mutation of GLUD1 gene was detected in case 11, and an E496K heterozygous mutation of SLC16A1 gene was detected in case 9. No mutation was found in the other 7 patients and their parents.The patients showed different responses to diazoxide. Conclusions ABCC8, GLUD1 and SLC16A1 gene mutations can cause CHI. Different gene mutations have different treatment responses to diazoxide. Some patients with glutamate dehydrogenase hyperinsulinism tend to be self-cured. |
| Author | 张微 徐子迪 刘敏 闫洁 吴玉筠 桑艳梅 |
| AuthorAffiliation | 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,100045 |
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| Author_FL | Zhang Wei Yan Jie Wu Yujun Liu Min Xu Zidi Sang Yanmei |
| Author_FL_xml | – sequence: 1 fullname: Zhang Wei – sequence: 2 fullname: Xu Zidi – sequence: 3 fullname: Liu Min – sequence: 4 fullname: Yan Jie – sequence: 5 fullname: Wu Yujun – sequence: 6 fullname: Sang Yanmei |
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| Keywords | 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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| Notes | 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 |
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| PublicationTitle | 中华糖尿病杂志 |
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| Publisher | 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 |
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| SubjectTerms | 二氮嗪 先天性高胰岛素血症 基因突变 |
| Title | 先天性高胰岛素血症13例致病基因突变分析 |
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