• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

PAX6 基因突变致无虹膜并伴发胰岛素依赖型糖尿病 1 例报告

Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus.

机构信息

Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan.

Ikuno Eye Center, Osaka City, Japan.

出版信息

J Diabetes Investig. 2019 Mar;10(2):552-553. doi: 10.1111/jdi.12902. Epub 2018 Aug 27.

DOI:10.1111/jdi.12902
PMID:30151985
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6400195/
Abstract

We present a case of a novel PAX6 heterozygous mutation with aniridia and insulin-dependent diabetes mellitus.To the best of our knowledge, this is the first case of its mutation with a complete loss of insulin secretory capacity. We believe that our letter will add new knowledge to diabetes mellitus associated with PAX6 mutations and might help us to understand the role of PAX6 in beta-cell development.

摘要

我们报告了一例新型 PAX6 杂合突变伴发无虹膜症和胰岛素依赖型糖尿病。据我们所知，这是首例该突变导致完全丧失胰岛素分泌能力的病例。我们相信，我们的病例报告将为 PAX6 突变相关糖尿病增添新的知识，并有助于我们理解 PAX6 在β细胞发育中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6182/6400195/4532b88b9a94/JDI-10-552-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6182/6400195/4532b88b9a94/JDI-10-552-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6182/6400195/4532b88b9a94/JDI-10-552-g001.jpg

相似文献

1
Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus.PAX6 基因突变致无虹膜并伴发胰岛素依赖型糖尿病 1 例报告
J Diabetes Investig. 2019 Mar;10(2):552-553. doi: 10.1111/jdi.12902. Epub 2018 Aug 27.
2
A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia.一例新发的伴有早发性糖尿病和无虹膜的成对盒基因6（PAX6）突变病例。
Diabet Med. 2005 May;22(5):641-4. doi: 10.1111/j.1464-5491.2005.01469.x.
3
Deletion distal to the PAX6 coding region reveals a novel basis for familial cosegregation of aniridia and diabetes mellitus.PAX6 编码区远端缺失揭示了家族性虹膜缺失和糖尿病共分离的新基础。
Diabetes Res Clin Pract. 2019 Feb;148:64-71. doi: 10.1016/j.diabres.2018.12.002. Epub 2018 Dec 17.
4
Novel Intragenic Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.家系中伴有无虹膜、病态肥胖和糖尿病的新型基因内缺失
Curr Eye Res. 2020 Jan;45(1):91-96. doi: 10.1080/02713683.2019.1649704. Epub 2019 Aug 14.
5
[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):616-619. doi: 10.3760/cma.j.issn.1003-9406.2019.06.022.
6
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism.三个中国先天性无虹膜家系中PAX6突变谱的扩展及男性生殖腺嵌合体的鉴定。
Mol Genet Genomic Med. 2018 Nov;6(6):1053-1067. doi: 10.1002/mgg3.481. Epub 2018 Oct 17.
7
A novel PAX6 mutation causes congenital aniridia with or without retinal detachment.一种新的PAX6突变导致伴有或不伴有视网膜脱离的先天性无虹膜。
Ophthalmic Genet. 2019 Apr;40(2):146-149. doi: 10.1080/13816810.2019.1597374. Epub 2019 Apr 15.
8
Heterozygous PAX6 mutations may lead to hyper-proinsulinaemia and glucose intolerance: A case-control study in families with congenital aniridia.杂合性 PAX6 突变可能导致高胰岛素原血症和葡萄糖不耐受：先天性无虹膜家系的病例对照研究。
Diabet Med. 2021 Feb;38(2):e14456. doi: 10.1111/dme.14456. Epub 2020 Dec 1.
9
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.在一个患有无虹膜的家系中鉴定出PAX6基因第8外显子的一种新型移码杂合缺失。
Mol Med Rep. 2016 Sep;14(3):2150-4. doi: 10.3892/mmr.2016.5467. Epub 2016 Jul 5.
10
A Novel Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia.在中国一个患有先天性无虹膜的家族中发现的一种新型杂合突变。
Genet Test Mol Biomarkers. 2019 Jul;23(7):495-500. doi: 10.1089/gtmb.2018.0334. Epub 2019 Jun 4.

引用本文的文献

1
Paired box 6 gene delivery preserves beta cells and improves islet transplantation efficacy.配对盒基因 6 基因传递可保存胰岛β细胞并提高胰岛移植疗效。
EMBO Mol Med. 2023 Dec 7;15(12):e17928. doi: 10.15252/emmm.202317928. Epub 2023 Nov 7.
2
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.先天性无虹膜症超越黑眼睛：从表型和新的遗传机制到创新的治疗方法。
Prog Retin Eye Res. 2023 Jul;95:101133. doi: 10.1016/j.preteyeres.2022.101133. Epub 2022 Oct 22.
3
A distinct role of STING in regulating glucose homeostasis through insulin sensitivity and insulin secretion.

本文引用的文献

1
Novel mutation reported in an aniridia patient.在一名无虹膜患者中报告的新型突变。
Hum Genome Var. 2017 Dec 7;4:17053. doi: 10.1038/hgv.2017.53. eCollection 2017.
2
A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia.一例新发的伴有早发性糖尿病和无虹膜的成对盒基因6（PAX6）突变病例。
Diabet Med. 2005 May;22(5):641-4. doi: 10.1111/j.1464-5491.2005.01469.x.
3
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.PAX6突变作为无虹膜症和葡萄糖不耐受的共同遗传因素。
STING 通过调节胰岛素敏感性和胰岛素分泌在葡萄糖稳态中发挥独特作用。
Proc Natl Acad Sci U S A. 2022 Feb 15;119(7). doi: 10.1073/pnas.2101848119.
4
Transient Hyperinsulinemic Hypoglycemia Linked to Mutation.与突变相关的短暂性高胰岛素血症性低血糖症。
Medicina (Kaunas). 2021 Jun 7;57(6):582. doi: 10.3390/medicina57060582.
5
Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.86 例 PAX6 相关无虹膜症患者的纵向基因型-表型分析。
JCI Insight. 2021 Jul 22;6(14):e148406. doi: 10.1172/jci.insight.148406.
Diabetes. 2002 Jan;51(1):224-30. doi: 10.2337/diabetes.51.1.224.
4
Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development.基因分析表明，PAX6是胰腺激素基因正常转录和胰岛发育所必需的。
Genes Dev. 1997 Jul 1;11(13):1662-73. doi: 10.1101/gad.11.13.1662.