在一个近亲家族中，通过8号染色体纯合区域的WRN纯合突变引起Werner综合征。

IF 2.5 4区医学 Q3 GERIATRICS & GERONTOLOGY

Geriatrics & Gerontology International Pub Date : 2025-07-22 DOI:10.1111/ggi.70130

Siruo Liu, Xiaoli Wang, Xiaojuan Zhao

{"title":"在一个近亲家族中，通过8号染色体纯合区域的WRN纯合突变引起Werner综合征。","authors":"Siruo Liu, Xiaoli Wang, Xiaojuan Zhao","doi":"10.1111/ggi.70130","DOIUrl":null,"url":null,"abstract":"<p>An 18-year-old man showing growth retardation, progeroid facies and acral abnormalities was found to have Werner syndrome caused by a homozygous <i>WRN</i> mutation (c.502_503del) located within a 36.7-Mb region of homozygosity on chromosome 8.\n <figure>\n <div><picture>\n <source></source></picture><p></p>\n </div>\n </figure></p>","PeriodicalId":12546,"journal":{"name":"Geriatrics & Gerontology International","volume":"25 9","pages":"1271-1272"},"PeriodicalIF":2.5000,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Werner syndrome due to homozygous WRN mutation through chromosome 8 region of homozygosity in a consanguineous family\",\"authors\":\"Siruo Liu, Xiaoli Wang, Xiaojuan Zhao\",\"doi\":\"10.1111/ggi.70130\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>An 18-year-old man showing growth retardation, progeroid facies and acral abnormalities was found to have Werner syndrome caused by a homozygous <i>WRN</i> mutation (c.502_503del) located within a 36.7-Mb region of homozygosity on chromosome 8.\\n <figure>\\n <div><picture>\\n <source></source></picture><p></p>\\n </div>\\n </figure></p>\",\"PeriodicalId\":12546,\"journal\":{\"name\":\"Geriatrics & Gerontology International\",\"volume\":\"25 9\",\"pages\":\"1271-1272\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2025-07-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Geriatrics & Gerontology International\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/ggi.70130\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GERIATRICS & GERONTOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Geriatrics & Gerontology International","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/ggi.70130","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GERIATRICS & GERONTOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

一名18岁男性表现为生长迟缓、早老性相和肢端异常，被发现患有Werner综合征，这是由位于8号染色体36.7 mb纯合区域的纯合WRN突变（c.502_503del）引起的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Werner syndrome due to homozygous WRN mutation through chromosome 8 region of homozygosity in a consanguineous family

查看原文本刊更多论文

Werner syndrome due to homozygous WRN mutation through chromosome 8 region of homozygosity in a consanguineous family

An 18-year-old man showing growth retardation, progeroid facies and acral abnormalities was found to have Werner syndrome caused by a homozygous WRN mutation (c.502_503del) located within a 36.7-Mb region of homozygosity on chromosome 8.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Geriatrics & Gerontology International 医学-老年医学

CiteScore

5.50

自引率

6.10%

发文量

189

审稿时长

4-8 weeks

期刊介绍： Geriatrics & Gerontology International is the official Journal of the Japan Geriatrics Society, reflecting the growing importance of the subject area in developed economies and their particular significance to a country like Japan with a large aging population. Geriatrics & Gerontology International is now an international publication with contributions from around the world and published four times per year.