[A case of complex structural variants in the Xq28 region diagnosed by whole genome sequencing].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-03-10 DOI:10.3760/cma.j.cn511374-20250217-00082

Yulai Yang, Chuang Li, Ming Gao, Yuan Lyu

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引用次数: 0

Abstract

Objective: To re-analyze a likely pathogenic variant in the Xq28 region identified by copy number variation sequencing (CNV-seq) through whole genome sequencing (WGS).

Methods: A fetus found to harbor a duplication in the Xq28 region by CNV-seq at Shengjing Hospital Affiliated to China Medical University in May 2023 was selected as the study subject. WGS was carried out for the fetus and its parents. Bioinformatic software was used to analyze the chromosomal structure and CNVs. Quantitative PCR (qPCR) was applied to determine the expression level of the MECP2 gene. This study has been approved by the Ethics Committee of Shengjing Hospital (Ethic No. 2013PS33K).

Results: A duplication (ChrX:153302641_153503563) and four breakpoints were identified on the X chromosome of the fetus' father. Bioinformatic analysis revealed that the duplicated region has involved exons 1 to 3 and part of the 5'-UTR of the MECP2 gene, which was inserted into the Xp11 region. Additionally, an inversion was detected in the Xp11 region adjacent to the duplicated segment. RT-PCR results showed normal level of MECP2 mRNA expression. The Xq28 duplication has not encompassed the entire MECP2 gene, nor disrupted its structure or altered its expression.

Conclusion: WGS has enabled more precise diagnosis of chromosomal structural variants and provided guidance for accurate genetic counseling for the affected families.

查看原文本刊更多论文

【全基因组测序诊断Xq28区复杂结构变异一例】。

目的：通过全基因组测序（WGS）重新分析拷贝数变异测序（CNV-seq）鉴定的Xq28区可能的致病变异。方法：选择2023年5月在中国医科大学附属盛京医院通过CNV-seq检测发现的Xq28区域存在重复的胎儿作为研究对象。对胎儿及其父母进行WGS。利用生物信息学软件分析染色体结构和CNVs。采用定量PCR （qPCR）检测MECP2基因的表达水平。本研究已获得盛京医院伦理委员会批准（伦理号：2013PS33K）。结果：在胎儿父亲的X染色体上发现了一个重复（ChrX:153302641_153503563）和四个断点。生物信息学分析显示，该重复区域涉及MECP2基因的1 ~ 3外显子和部分插入到Xp11区域的5'-UTR。此外，在与重复片段相邻的Xp11区域检测到反转。RT-PCR结果显示MECP2 mRNA表达正常。Xq28的重复没有包含整个MECP2基因，也没有破坏其结构或改变其表达。结论：WGS能够更精确地诊断染色体结构变异，为患病家庭提供准确的遗传咨询提供指导。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.