[一个因 KCNH2 基因变异而患 2 型长 QT 综合征的中国血统的临床和遗传分析]。

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2024-10-10 DOI:10.3760/cma.j.cn511374-202310100-00179

Haitao Yang, Meng Sun, Jingjing Liu, Xiaosheng Chen, Xizheng Xu, Juan Hu, Lijie Yan, Jintao Wu

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引用次数: 0

摘要

目的探讨中国2型长QT综合征（LQTS）血统的临床和遗传学病因：方法：选取2019年8月23日在阜外华中心血管病医院就诊的一名2型LQTS家系作为研究对象。研究人员采集了该患者及其父母的外周血样本。提取基因组DNA后，对该患者进行了全外显子组测序（WES），并通过功能注释和蛋白相互作用（PPI）分析筛选出候选变异。为验证候选变异体的致病性，还进行了 Sanger 测序。本研究获得了阜外华中心血管病医院的批准（伦理编号：2019-15）：WES显示，该患者携带KCNH2基因的一个错义变异，即c.1478A>G (p.Tyr493Cys)，经桑格测序证实该变异遗传自其父亲。根据美国医学遗传学和基因组学学院（ACMG）的指南，该变异被归类为可能致病（PM2_支持+PM5+PP3+PP4）：结论：KCNH2 基因 c.1478A>G (p.Tyr493Cys) 变异可能是该血统中 2 型 LQTS 的基础。

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[Clinical and genetic analysis of a Chinese pedigree affected with type 2 Long QT syndrome due to variant of KCNH2 gene].

Objetive: To explore the clinical and genetic etiology of a Chinese pedigree affected with type 2 Long QT syndrome (LQTS).

Methods: A pedigree with type 2 LQTS presented at Fuwai Central China Cardiovascular Hospital on August 23, 2019 was selected as the study subject. Peripheral blood samples were collected from the proband and her parents. Following extraction of genomic DNA, whole exome sequencing (WES) was carried out for the proband, and candidate variant was screened through functional annotation and protein-protein interaction (PPI) analysis. Sanger sequencing was conducted to verify the pathogenicity of candidate variant. This study was approved by the Fuwai Central China Cardiovascular Hospital (Ethics No. 2019-15).

Results: WES revealed that the proband has harbored a missense variant of the KCNH2 gene, namely c.1478A>G (p.Tyr493Cys), which was confirmed by Sanger sequencing to have inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_supporting+PM5+PP3+PP4).

Conclusion: The KCNH2 gene c.1478A>G (p.Tyr493Cys) variant probably underlay the type 2 LQTS in this pedigree.

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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.