Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY BMC Medical Genomics Pub Date : 2024-09-09 DOI:10.1186/s12920-024-01997-2
Liqing Chen, Xiaoping Luo, Hongling Wang, Yu Tian, Yan Liu
{"title":"Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases","authors":"Liqing Chen, Xiaoping Luo, Hongling Wang, Yu Tian, Yan Liu","doi":"10.1186/s12920-024-01997-2","DOIUrl":null,"url":null,"abstract":"Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES). : Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS). These variants were subsequently confirmed via Sanger sequencing. The first case involved a pericentric inversion extending from DMD intron 47 to Xq27.3. The second case featured a paracentric inversion between DMD intron 42 and Xp21.1, inherited from the mother. In both cases, simple repeat sequences (SRS) were present at the breakpoints of these inversions. Our findings demonstrate that LRS is an effective tool for detecting atypical mutations. The identification of SRS at the breakpoints in DMD patients enhances our understanding of the mechanisms underlying structural variations, thereby facilitating the exploration of potential treatments.","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":null,"pages":null},"PeriodicalIF":2.1000,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Medical Genomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12920-024-01997-2","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

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES). : Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS). These variants were subsequently confirmed via Sanger sequencing. The first case involved a pericentric inversion extending from DMD intron 47 to Xq27.3. The second case featured a paracentric inversion between DMD intron 42 and Xp21.1, inherited from the mother. In both cases, simple repeat sequences (SRS) were present at the breakpoints of these inversions. Our findings demonstrate that LRS is an effective tool for detecting atypical mutations. The identification of SRS at the breakpoints in DMD patients enhances our understanding of the mechanisms underlying structural variations, thereby facilitating the exploration of potential treatments.
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
通过长线程测序鉴定肌营养不良蛋白基因中的断点倒位:两个病例的报告
杜氏肌肉萎缩症(DMD)是一种由 DMD 基因突变引起的 X 连锁疾病,大缺失是最常见的突变类型。涉及 DMD 基因的倒位是一种不太常见的疾病病因,这主要是因为它们通常无法被标准诊断方法(如多重连接探针扩增(MLPA)和全外显子组测序(WES))检测到。 我们的研究通过长读测序(LRS)在两个没有血缘关系的家庭中发现了两个涉及肌营养不良症基因的染色体内倒位。这些变异随后通过桑格测序得到证实。第一个病例涉及从 DMD 内含子 47 扩展到 Xq27.3 的同中心倒位。第二个病例的特点是在 DMD 内含子 42 和 Xp21.1 之间的旁中心倒位,由母亲遗传。在这两个病例中,简单重复序列(SRS)都出现在这些倒位的断点处。我们的研究结果表明,LRS 是检测非典型突变的有效工具。在 DMD 患者的断点处发现 SRS 有助于加深我们对结构变异机制的了解,从而有助于探索潜在的治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
期刊最新文献
The signature of SARS-CoV-2-related genes predicts the immune therapeutic response and prognosis in breast cancer. Association between venous thromboembolism and atrial fibrillation: a Mendelian randomization study. New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis. RNA-seq validation of microRNA expression signatures for precision melanoma diagnosis and prognostic stratification. The Toll-like receptor 4 antagonist TAK-242 in combination with sodium hyaluronate alleviates postoperative abdominal adhesion in a mouse model.
×
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