坦桑尼亚罹患 Wilms 肿瘤的兄弟姐妹中的新型 CTR9 基因致病剪接位点变异。

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2024-09-16 DOI:10.1016/j.ejmg.2024.104973
Ali Iman , Esther Majaliwa , Lossim G. Kambainei , Alex Mremi , Arjen R. Mensenkamp , Ben C. Hamel
{"title":"坦桑尼亚罹患 Wilms 肿瘤的兄弟姐妹中的新型 CTR9 基因致病剪接位点变异。","authors":"Ali Iman ,&nbsp;Esther Majaliwa ,&nbsp;Lossim G. Kambainei ,&nbsp;Alex Mremi ,&nbsp;Arjen R. Mensenkamp ,&nbsp;Ben C. Hamel","doi":"10.1016/j.ejmg.2024.104973","DOIUrl":null,"url":null,"abstract":"<div><div>Wilms tumor is the most common childhood renal malignancy. Though mostly non-genetic, it can be syndromic with the involvement of many Wilms tumor predisposing genes and non-syndromic with the involvement of four genes: <em>WT1</em>, <em>REST, TRIM28,</em> and <em>CTR9</em>. Familial and bilateral Wilms tumors do occur, but these are rare. So far, four Wilms tumor families with pathogenic variants in the <em>CTR9</em> gene have been described, all (presumably) inherited from unaffected fathers, and three leading to deletion of exon 9. We are reporting female siblings, of whom one has a bilateral Wilms tumor, with a novel pathogenic splice site variant in the <em>CTR9</em> gene, leading to deletion of exon 9, and inherited from their asymptomatic father. The loss of heterozygosity in the tumor was confirmed. In conclusion, <em>CTR9</em> pathogenic variants are a very rare cause of Wilms tumors and typically result in familial Wilms tumors.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104973"},"PeriodicalIF":1.6000,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S176972122400065X/pdfft?md5=70b5699e9b0e63dd77631839ef4ead00&pid=1-s2.0-S176972122400065X-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania\",\"authors\":\"Ali Iman ,&nbsp;Esther Majaliwa ,&nbsp;Lossim G. Kambainei ,&nbsp;Alex Mremi ,&nbsp;Arjen R. Mensenkamp ,&nbsp;Ben C. Hamel\",\"doi\":\"10.1016/j.ejmg.2024.104973\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Wilms tumor is the most common childhood renal malignancy. Though mostly non-genetic, it can be syndromic with the involvement of many Wilms tumor predisposing genes and non-syndromic with the involvement of four genes: <em>WT1</em>, <em>REST, TRIM28,</em> and <em>CTR9</em>. Familial and bilateral Wilms tumors do occur, but these are rare. So far, four Wilms tumor families with pathogenic variants in the <em>CTR9</em> gene have been described, all (presumably) inherited from unaffected fathers, and three leading to deletion of exon 9. We are reporting female siblings, of whom one has a bilateral Wilms tumor, with a novel pathogenic splice site variant in the <em>CTR9</em> gene, leading to deletion of exon 9, and inherited from their asymptomatic father. The loss of heterozygosity in the tumor was confirmed. In conclusion, <em>CTR9</em> pathogenic variants are a very rare cause of Wilms tumors and typically result in familial Wilms tumors.</div></div>\",\"PeriodicalId\":11916,\"journal\":{\"name\":\"European journal of medical genetics\",\"volume\":\"72 \",\"pages\":\"Article 104973\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2024-09-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S176972122400065X/pdfft?md5=70b5699e9b0e63dd77631839ef4ead00&pid=1-s2.0-S176972122400065X-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of medical genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S176972122400065X\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S176972122400065X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

Wilms 肿瘤是最常见的儿童肾脏恶性肿瘤。虽然大多数情况下是非遗传性的,但它可以是综合征,涉及许多 Wilms 肿瘤易感基因,也可以是非综合征,涉及四个基因:WT1、REST、TRIM28 和 CTR9。家族性和双侧 Wilms 肿瘤确实存在,但非常罕见。迄今为止,已有 4 个 Wilms 肿瘤家族描述了 CTR9 基因的致病变异,全部(可能)遗传自未受影响的父亲,其中 3 个导致第 9 号外显子缺失。我们报告了一对女性兄弟姐妹,其中一人患有双侧 Wilms 肿瘤,她们的 CTR9 基因存在一个新的致病剪接位点变异,导致第 9 号外显子缺失,遗传自她们无症状的父亲。肿瘤中的杂合性缺失已得到证实。总之,CTR9 致病变体是导致 Wilms 肿瘤的一个非常罕见的原因,通常会导致家族性 Wilms 肿瘤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania
Wilms tumor is the most common childhood renal malignancy. Though mostly non-genetic, it can be syndromic with the involvement of many Wilms tumor predisposing genes and non-syndromic with the involvement of four genes: WT1, REST, TRIM28, and CTR9. Familial and bilateral Wilms tumors do occur, but these are rare. So far, four Wilms tumor families with pathogenic variants in the CTR9 gene have been described, all (presumably) inherited from unaffected fathers, and three leading to deletion of exon 9. We are reporting female siblings, of whom one has a bilateral Wilms tumor, with a novel pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from their asymptomatic father. The loss of heterozygosity in the tumor was confirmed. In conclusion, CTR9 pathogenic variants are a very rare cause of Wilms tumors and typically result in familial Wilms tumors.
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
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
期刊最新文献
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1