Werner综合征一例及其精准诊断

doi:10.35541/cjd.20190410

中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (9): 738-740.doi: 10.35541/cjd.20190410

Werner综合征一例及其精准诊断

霞尔巴提·哈布烈提¹ 王蓉蓉¹ 马东来² 张学¹

¹中国医学科学院基础医学研究所北京协和医学院基础学院麦库西克-张孝骞协和遗传医学中心医学分子生物学国家重点实验室，北京 100005；²中国医学科学院北京协和医学院北京协和医院皮肤科 100730

收稿日期:2019-03-22 修回日期:2019-09-08 发布日期:2020-08-31
通讯作者: 张学；马东来 E-mail:xuezhang@pumc.edu.cn; mdonglai@pumch.cams.cn
基金资助:
国家重点研发计划项目（2016YFC0905100）；北京市自然科学基金（7172167）；中国医学科学院医学与健康科技创新工程项目（2016-I2M-1-002）

A case of Werner syndrome and its precise diagnosis

Xiaerbati · Habulieti¹, Wang Rongrong¹, Ma Donglai², Zhang Xue¹

¹McKusick⁃Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China; ²Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China

Received:2019-03-22 Revised:2019-09-08 Published:2020-08-31
Contact: Zhang Xue; Ma Donglai E-mail:xuezhang@pumc.edu.cn; mdonglai@pumch.cams.cn
Supported by:
National Key Research and Development Program of China （2016YFC0905100）; Natural Science Foundation of Beijing （7172167）; CAMS Innovation Fund for Medical Sciences （2016-I2M-1-002）

摘要/Abstract

摘要： Werner 综合征（WS）为白内障-硬皮病-早老综合征，是由WRN基因突变引起的常染色体隐性遗传疾病。临床表现涉及多系统改变，过早衰老为其特征性表现。WS患者临床表现多样，异质性较强，误诊率较高。我们报道1例以双足第1跖趾关节疼痛伴四肢皮肤变硬为主要表现的WS患者及其WRN基因突变情况……

霞尔巴提·哈布烈提王蓉蓉马东来张学. Werner综合征一例及其精准诊断[J]. 中华皮肤科杂志, 2020,53(9):738-740. doi:10.35541/cjd.20190410

Xiaerbati · Habulieti, Wang Rongrong, Ma Donglai, Zhang Xue. A case of Werner syndrome and its precise diagnosis[J]. Chinese Journal of Dermatology, 2020, 53(9): 738-740.doi:10.35541/cjd.20190410

参考文献 11

［1］	Werner syndrome［EB/OL］. http://www.wernersyndrome.org/registry/ registry.html.
［2］	Huang S, Lee L, Hanson NB, et al. The spectrum of WRN mutations in Werner syndrome patients［J］. Hum Mutat, 2006,27（6）:558⁃567. doi: 10.1002/humu.20337.
［3］	Hisama FM, Kubisch C, Martin GM, et al. Clinical utility gene card for: Werner Syndrome⁃⁃Update 2014［J］. Eur J Hum Genet, 2015,23（6）. doi: 10.1038/ejhg.2014.171.
［4］	Suzuki T, Shiratori M, Furuichi Y, et al. Diverged nuclear localization of Werner helicase in human and mouse cells［J］. Oncogene, 2001,20（20）:2551⁃2558. doi: 10.1038/sj.onc.1204344.
［5］	Oshitari T, Kitahashi M, Mizuno S, et al. Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas［J］. BMC Ophthalmol, 2014,14:31. doi: 10.1186/1471⁃2415⁃14⁃31.
［6］	von Kobbe C, Thomä NH, Czyzewski BK, et al. Werner syndrome protein contains three structure⁃specific DNA binding domains［J］. J Biol Chem, 2003,278（52）:52997⁃53006. doi: 10.1074/jbc. M308338200.
［7］	Rossi ML, Ghosh AK, Bohr VA. Roles of Werner syndrome protein in protection of genome integrity［J］. DNA Repair （Amst）, 2010,9（3）:331⁃344. doi: 10.1016/j.dnarep.2009.12.011.
［8］	von Kobbe C, Bohr VA. A nucleolar targeting sequence in the Werner syndrome protein resides within residues 949⁃1092［J］. J Cell Sci, 2002,115（Pt 20）:3901⁃3907. doi: 10.1242/jcs.00076.
［9］	Friedrich K, Lee L, Leistritz DF, et al. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic⁃specific alterations［J］. Hum Genet, 2010,128（1）:103⁃111. doi: 10.1007/s00439⁃010⁃0832⁃5.
［10］	Bachrati CZ, Hickson ID. RecQ helicases: suppressors of tumorigenesis and premature aging［J］. Biochem J, 2003,374（Pt 3）:577⁃606. doi: 10.1042/BJ20030491.
［11］	Matsumoto T, Shimamoto A, Goto M, et al. Impaired nuclear localization of defective DNA helicases in Werner′s syndrome［J］. Nat Genet, 1997,16（4）:335⁃336. doi: 10.1038/ng0897⁃335.

Werner综合征一例及其精准诊断

A case of Werner syndrome and its precise diagnosis

PDF

PDF (Mobile)

可视化

摘要/Abstract

引用本文

使用本文

参考文献 11

相关文章 0

Metrics

本文评价

推荐阅读 10